P7L Summary

SCN5A P7L was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. P7L is present in 1 out of 247200 alleles in gnomAD (minor allele frequency of 0.000405%). P7L has been functionally characterized in 0 papers. Other variants at the same resdue are P7A .P7H .P7L .P7R .P7S .P7T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P7L 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
Damaging 0.001 -7.84 possiblydamaging 0.931 1.726 -6.95 -7 0.763

P7L has 21 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
1 9.3
2 8.5 A2T
3 7.6
4 6.6
5 5.4
6 3.8
8 3.8 R8Q
9 5.4 G9S
10 6.6
11 7.6
12 8.5
13 9.3
14 10.1 R14C R14H
15 10.7 R15G R15M R15T
16 11.4
17 12
18 12.6 R18Q R18W
19 13.2
20 13.7
21 14.2
22 14.7 A22V