SCN5A Variant L511H
Summary of observed carriers, functional annotations, and structural context for SCN5A L511H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/10 effective observations
Estimated BrS1 penetrance
22%
2/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 2 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 | 0.416 | 29 | 2 |
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 | 13 | 0 | 2 | – | – |
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 |
|---|---|---|
| 496 | 15 | K496M, K496N, |
| 497 | 14 | S497C, |
| 498 | 14 | |
| 499 | 13 | |
| 500 | 13 | E500K, |
| 501 | 12 | D501G, |
| 502 | 11 | |
| 503 | 11 | P503S, |
| 504 | 10 | R504T, |
| 505 | 9 | A505E, |
| 506 | 8 | M506K, |
| 507 | 8 | p.N507_L515dup, |
| 508 | 7 | |
| 509 | 5 | |
| 510 | 4 | |
| 511 | 0 | |
| 512 | 4 | T512I, |
| 513 | 5 | R513H, R513C, c.1537delC, R513P, |
| 514 | 7 | G514C, |
| 515 | 8 | |
| 516 | 8 | |
| 517 | 9 | R517S, |
| 518 | 10 | |
| 519 | 11 | S519F, |
| 520 | 11 | M520R, M520V, |
| 521 | 12 | K521E, c.1562delA, |
| 522 | 13 | P522S, |
| 523 | 13 | R523S, R523H, R523C, |
| 524 | 14 | S524Y, c.1570_1571insG, |
| 525 | 14 | S525G, |
| 526 | 15 | R526H, R526C, |