SCN5A Variant T157P

Summary of observed carriers, functional annotations, and structural context for SCN5A T157P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0/10 effective observations

Estimated BrS1 penetrance

12%

1/10 effective observations

Total carriers

0 BrS1 · 0 LQT3 · 0 unaffected

T157P has not been reported 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 (%)
NA	NA	NA	0.719	9	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	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 T157P.
Neighbour residue	Distance (Å)	Observed variants
208	14	E208K,
154	9	P154L,
158	6	K158T,
156	6	W156R, W156R, W156X,
163	10	c.486delC,
166	15	A166T,
152	12	D152N,
161	7	E161K, E161Q,
219	13	p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
144	11
151	8
146	12	V146M, V146A,
222	13	R222X, R222Q, R222L
159	5	Y159C, Y159X,
153	10
155	6
149	12
147	7
207	15
150	9
164	10	F164L, F164L, F164L,
157	0	T157I,
148	12
160	5	p.V160fs,
165	13
145	14
140	15
162	9	Y162H, Y162C,
143	12