SCN5A Variant P153A

Summary of observed carriers, functional annotations, and structural context for SCN5A P153A. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

9%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

P153A 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 0.618 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 P153A.
Neighbour residue Distance (Å) Observed variants
154 4 P154L,
1444 15 L1444I
153 0
149 8
147 10
156 8 W156R, W156R, W156X,
158 14 K158T,
886 14 H886P, H886Q, H886Q,
155 5
150 6
157 10 T157I,
882 12
160 14 p.V160fs,
858 13 M858L, M858L,
144 15
855 15
148 12
884 12
885 12
146 12 V146M, V146A,
1441 15 E1441Q,
152 5 D152N,
161 15 E161K, E161Q,
151 7
159 15 Y159C, Y159X,
883 10
145 15