L567P Summary

SCN5A L567P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L567P is not present in gnomAD. L567P has been functionally characterized in 0 papers. Other variants at the same resdue are L567M .L567P .L567Q .L567R .L567V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L567P 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 0.541

L567P has 30 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
552 14.7 G552R G552R G552W
553 14.2
554 13.7
555 13.2 E555K
556 12.6
557 12 H557Y
558 11.4 H558R
559 10.7 T559I
560 10.1
561 9.3
562 8.5
563 7.6
564 6.6
565 5.4
566 3.8
568 3.8 R568C R568H
569 5.4 R569Q R569W
570 6.6 T570N
571 7.6 S571I
572 8.5 A572D A572F A572S A572V
573 9.3 Q573E
574 10.1
575 10.7
576 11.4
577 12
578 12.6
579 13.2 G579R G579R
580 13.7
581 14.2 S581L
582 14.7