SCN5A Variant H557Q
Summary of observed carriers, functional annotations, and structural context for SCN5A H557Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
9%
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 (%) |
|---|---|---|---|---|---|
| -1.66 | 0.993 | 0.01 | 0.518 | 1 | 0 |
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 |
|---|---|---|
| 542 | 15 | |
| 543 | 14 | F543L, F543L, F543L, |
| 544 | 14 | |
| 545 | 13 | |
| 546 | 13 | |
| 547 | 12 | |
| 548 | 11 | |
| 549 | 11 | |
| 550 | 10 | |
| 551 | 9 | A551V, A551T, |
| 552 | 8 | G552W, G552R, G552R, |
| 553 | 8 | E553K, E553X, |
| 554 | 7 | S554I, S554N, |
| 555 | 5 | E555K, |
| 556 | 4 | |
| 557 | 0 | H557L, H557Y, H557Q, H557Q, |
| 558 | 4 | H558R, |
| 559 | 5 | T559R, T559I, |
| 560 | 7 | |
| 561 | 8 | |
| 562 | 8 | |
| 563 | 9 | V563G, |
| 564 | 10 | |
| 565 | 11 | |
| 566 | 11 | |
| 567 | 12 | L567Q, |
| 568 | 13 | R568C, R568H, |
| 569 | 13 | R569Q, R569W, c.1705dupC, |
| 570 | 14 | T570N, |
| 571 | 14 | S571I, |
| 572 | 15 | A572S, A572V, A572F, A572D |