SCN5A Variant R8P
Summary of observed carriers, functional annotations, and structural context for SCN5A R8P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
2%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 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 (%) |
---|---|---|---|---|---|
3.86 | 0.134 | 0.83 | 0.308 | 1 | 7 |
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 | – | 1 | 1 | 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 |
---|---|---|
1 | 10 | M1I, c.-53+1G>A, |
2 | 9 | A2T, |
3 | 8 | N3K, N3K, N3S, |
4 | 8 | F4V, |
5 | 7 | |
6 | 5 | L6S, |
7 | 4 | P7L, P7R, |
8 | 0 | R8W, R8P, R8Q, |
9 | 4 | G9S, G9V, |
10 | 5 | T10S, T10S, |
11 | 7 | S11R, S11R, S11R, |
12 | 8 | |
13 | 8 | |
14 | 9 | R14S, R14H, R14C, |
15 | 10 | R15G, R15M, R15T, |
16 | 11 | F16L, F16L, F16L, |
17 | 11 | |
18 | 12 | R18Q, R18W |
19 | 13 | |
20 | 13 | S20F, |
21 | 14 | L21V, |
22 | 14 | A22V, |
23 | 15 | A23S, |