SCN5A Variant K480E

Summary of observed carriers, functional annotations, and structural context for SCN5A K480E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0/10 effective observations

Estimated BrS1 penetrance

0/10 effective observations

Total carriers

0 BrS1 · 0 LQT3 · 0 unaffected

K480E has not been reported in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 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	0.652	5	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

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	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.

Previously observed variants near K480E.
Neighbour residue	Distance (Å)	Observed variants
465	15	p.P465LfsX5,
466	14	L466F,
467	14
468	13	P468L,
469	13	V469I,
470	12	N470K,
471	11
472	11
473	10	E473X,
474	9	R474K, R474G,
475	8	R475K, R475S,
476	8
477	7	c.1428_1431delCAAG,
478	5
479	4
480	0	K480N,
481	4	R481W, R481Q,
482	5	M482I,
483	7
484	8
485	8
486	9	T486S, T486A,
487	10
488	11
489	11
490	12	G490A, G490E,
491	13	E491G,
492	13
493	14	R493K,
494	14
495	15