SCN5A Variant F164L
Summary of observed carriers, functional annotations, and structural context for SCN5A F164L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
19%
2/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.78 | 0.951 | -1.61 | 0.986 | 23 | 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
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
Variant features alone | – | 15 | 13 | 0 | 2 | – | – |
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.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
223 | 13 | V223L, |
149 | 14 | |
147 | 8 | |
164 | 0 | F164L, F164L, F164L, |
170 | 12 | F170I, |
228 | 15 | K228R, |
138 | 12 | M138I, M138I, M138I, |
171 | 11 | |
143 | 7 | |
137 | 10 | I137V, |
142 | 11 | |
156 | 14 | W156X, W156R, W156R, |
158 | 11 | K158T, |
197 | 14 | |
163 | 5 | c.486delC, |
169 | 10 | |
222 | 9 | R222L, R222X, R222Q, |
224 | 15 | L224F, |
150 | 13 | |
133 | 14 | |
157 | 10 | T157I, |
160 | 5 | p.V160fs, |
226 | 13 | A226V, A226G, |
205 | 14 | c.612-2A>G, Y205X, |
166 | 7 | A166T, |
144 | 6 | |
172 | 14 | |
139 | 10 | p.I137_C139dup, |
148 | 10 | |
165 | 6 | |
204 | 10 | A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V, |
162 | 8 | Y162C, Y162H, |
146 | 11 | V146A, V146M, |
203 | 15 | |
208 | 11 | E208K, |
136 | 12 | L136P, |
168 | 6 | |
202 | 15 | I202T, |
141 | 8 | I141N, I141V, |
167 | 6 | |
161 | 6 | E161Q, E161K, |
201 | 11 | |
219 | 13 | p.R219HfsX11, c.656_657insATTCA, R219H, R219C |
225 | 10 | R225Q, R225W, |
151 | 12 | |
159 | 9 | Y159X, Y159C, |
207 | 13 | |
200 | 12 | |
145 | 10 | |
140 | 6 |