SCN5A Variant L114F

Summary of observed carriers, functional annotations, and structural context for SCN5A L114F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

35%

1/10 effective observations

Estimated BrS1 penetrance

9%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

L114F has not been reported in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 1 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 0.392 6 48

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 14 1 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 L114F.
Neighbour residue Distance (Å) Observed variants
126 15 K126E,
175 13 K175N, K175N,
113 4 V113I, V113A,
188 12
178 8 A178G,
128 14 c.381dupT,
117 10
179 8 R179X, R179Q,
119 12 P119S, P119L,
177 7 L177P,
123 13 A123G, A123V,
121 6 R121W, R121Q,
124 11 A124D,
118 7
125 11 V125L, V125L,
181 6
176 8
172 14
174 12 V174I,
185 11 A185T, A185V,
115 5 S115G,
186 14
182 9 C182R, C182Y,
173 12
112 7 Y112C,
114 0
184 7 H184R,
116 7
187 13 T187S, T187S, T187I
180 5 G180V,
120 11
183 9
122 11