SCN5A Variant P154R

Summary of observed carriers, functional annotations, and structural context for SCN5A P154R. 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

P154R 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 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 0.73 4 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 P154R.
Neighbour residue Distance (Å) Observed variants
154 0 P154L,
862 14
158 12 K158T,
859 14
152 6 D152N,
161 13 E161K, E161Q,
858 12 M858L, M858L,
219 14 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
151 7
153 4
159 14 Y159C, Y159X,
883 11
155 4
149 10
147 11
150 8
157 9 T157I,
882 11
863 15
148 12
160 13 p.V160fs,
884 14
866 15 S866P, S866L
156 5 W156R, W156R, W156X,
885 15
146 14 V146M, V146A,