SCN5A Variant A60P
Summary of observed carriers, functional annotations, and structural context for SCN5A A60P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/12 effective observations
Estimated BrS1 penetrance
7%
0/12 effective observations
Total carriers
2
0 BrS1 · 0 LQT3 · 2 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.38 | 0.999 | -0.12 | 0.847 | 3 | 1 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 2 | 2 | 0 | 0 | – | |
Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
45 | 15 | G45A, |
46 | 14 | |
47 | 14 | |
48 | 13 | E48K, |
49 | 13 | E49K, |
50 | 12 | |
51 | 11 | A51V, |
52 | 11 | P52H, P52S, |
53 | 10 | R53Q, |
54 | 9 | |
55 | 8 | Q55X, |
56 | 8 | |
57 | 7 | |
58 | 5 | |
59 | 4 | |
60 | 0 | A60P, |
61 | 4 | |
62 | 5 | K62T, |
63 | 7 | K63N, |
64 | 8 | p.L64del, |
65 | 8 | |
66 | 9 | D66N, |
67 | 10 | |
68 | 11 | Y68C, |
69 | 11 | G69D, |
70 | 12 | N70K, N70S, |
71 | 13 | |
72 | 13 | |
73 | 14 | Q73X, |
74 | 14 | E74D, E74K, |
75 | 15 |