SCN5A Variant L511F

Summary of observed carriers, functional annotations, and structural context for SCN5A L511F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

22%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

L511F has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
NA NA NA 0.444 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

Observed carriers by publication or cohort.
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.

Previously observed variants near L511F.
Neighbour residue Distance (Å) Observed variants
496 15 K496M, K496N, 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 c.1537delC, R513H, R513C, R513P,
514 7 G514C,
515 8
516 8
517 9 R517S, R517S,
518 10
519 11 S519F,
520 11 M520R, M520V,
521 12 c.1562delA, K521E,
522 13 P522S,
523 13 R523H, R523C, R523S,
524 14 S524Y, c.1570_1571insG,
525 14 S525G,
526 15 R526H, R526C,