SCN5A Variant K1018E

Summary of observed carriers, functional annotations, and structural context for SCN5A K1018E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/11 effective observations

Estimated BrS1 penetrance

11%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

K1018E is present in 1 alleles 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 1 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 (%)
0.21 0.001 0.19 0.427 10 7

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 – 1 1 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.

Previously observed variants near K1018E.
Neighbour residue Distance (Å) Observed variants
1003 15
1004 14 C1004R,
1005 14 I1005T, I1005V,
1006 13 A1006S,
1007 13 T1007N, T1007I,
1008 12 P1008S,
1009 11
1010 11
1011 10 P1011L, P1011S,
1012 9
1013 8
1014 8 P1014S,
1015 7 p.G1015DfsX14, E1015K,
1016 5 c.3045_3046delGA, T1016M,
1017 4
1018 0 K1018E,
1019 4
1020 5
1021 7 P1021S,
1022 8
1023 8 R1023H, R1023P, R1023C,
1024 9 K1024R,
1025 10 E1025A,
1026 11
1027 11 R1027P, R1027Q, R1027W,
1028 12
1029 13 E1029K,
1030 13
1031 14 p.G1031fsX27,
1032 14 E1032D, E1032D, E1032K,
1033 15 Q1033R,