SCN5A Variant Q150K

Summary of observed carriers, functional annotations, and structural context for SCN5A Q150K. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

10%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

Q150K 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 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 0.605 6 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 Q150K.
Neighbour residue Distance (Å) Observed variants
154 8 P154L,
223 15 V223L,
859 15
153 6
149 4
147 6
164 13 F164L, F164L, F164L,
887 15
143 10
142 13
156 10 W156R, W156R, W156X,
158 14 K158T,
851 13 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
854 14 c.2559delT,
222 14 R222X, R222Q, R222L,
155 8
150 0
157 9 T157I,
882 14
160 11 p.V160fs,
858 12 M858L, M858L
144 10
855 12
148 8
884 10
885 11
146 6 V146M, V146A,
152 6 D152N,
141 15 I141V, I141N,
161 12 E161K, E161Q,
219 15 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
151 6
159 13 Y159C, Y159X,
883 11
145 10
140 15