L791P Summary

SCN5A L791P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L791P is not present in gnomAD. L791P has been functionally characterized in 0 papers. Other variants at the same resdue are L791F .L791H .L791I .L791P .L791R .L791V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L791P Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.951

L791P has 42 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
730 14.7
734 14.8
753 13.4
754 14.6
757 10.7
758 13.6
760 12
761 11.8
764 13.2 M764K
782 15
783 12.4
784 10.4
785 10.6 D785N
786 8.5
787 6
788 6
789 6.5 V789I
790 4.6
792 4.8
793 7
794 4.8
795 7.3
796 9.5
797 10.6 G797V
798 10.2
799 12.7
800 14.1 R800C R800H R800L
803 14.6
804 12.9
805 12.4 S805L
806 9.9
807 6.2
808 11.3 R808C
809 9.2
810 5.6
811 9 R811H
812 11.2
813 8.1
814 9.3 R814Q
815 13.9
816 13.6 F816Y
817 14.2