SCN5A Variant P1298H
Summary of observed carriers, functional annotations, and structural context for SCN5A P1298H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
12%
0/10 effective observations
Estimated BrS1 penetrance
17%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.885 | 16 | 12 |
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 | – | 0 | 0 | 0 | 0 | – | |
| Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
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 |
|---|---|---|
| 1297 | 3 | |
| 1281 | 14 | c.3840+1G>A, V1281F, |
| 1243 | 15 | D1243N, |
| 1285 | 11 | |
| 1299 | 5 | c.3894delC, |
| 1295 | 8 | E1295K, |
| 1298 | 0 | P1298L, |
| 1288 | 9 | A1288G, |
| 1733 | 13 | |
| 1286 | 15 | |
| 1738 | 14 | S1738T, S1738F, |
| 1302 | 11 | p.L1302Vfs18, |
| 1289 | 11 | |
| 1678 | 14 | N1678S, |
| 1300 | 6 | |
| 1735 | 12 | |
| 1296 | 7 | M1296T, |
| 1301 | 11 | |
| 1292 | 9 | |
| 1284 | 12 | |
| 1734 | 9 | |
| 1291 | 9 | |
| 1677 | 13 | |
| 1240 | 13 | E1240Q, |
| 1287 | 13 | |
| 1732 | 13 | |
| 1290 | 13 | |
| 1736 | 14 | |
| 1293 | 9 | F1293S, |
| 1236 | 14 | K1236R, K1236N, K1236N, |
| 1294 | 11 | A1294G, |
| 1303 | 13 | R1303W, R1303Q, |