SCN5A Variant L132P

Summary of observed carriers, functional annotations, and structural context for SCN5A L132P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

53%

5/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

L132P has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 5 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 0.958 79 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 10 0 5 – –

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 L132P.
Neighbour residue Distance (Å) Observed variants
142 15
171 13
126 13 K126E,
136 5 L136P,
175 15 K175N, K175N,
129 10
141 14 I141V, I141N,
135 5 M135V,
167 13
128 10 c.381dupT,
137 9 I137V,
123 14 A123G, A123V,
127 9
124 14 A124D,
125 14 V125L, V125L,
131 5
232 14 V232I, V232F
174 14 V174I,
133 6
139 10 p.I137_C139dup,
132 0 c.393-5C>A,
130 5
170 14 F170I,
134 7 N134S,
138 11 M138I, M138I, M138I,
140 12