KCNQ1 Variant F166V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 F166V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

16%

1/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

F166V is present in 1 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-5.69 0.197 0 0.741 11

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. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 1 1 0 –
Variant features alone – 15 9 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 F166V.
Neighbour residue Distance (Å) Observed variants
166 0 F166V,
167 4
163 6
170 6
169 6 T169M, T169R,
165 6 V165M,
168 6 G168R, G168R, G168R, G168R,
164 7
162 7 V162M,
129 8 V129I,
125 9
132 9 I132L,
173 10
172 11 V172M, V172E,
174 11 R174H, R174C, R174L,
206 11 V206L,
171 11
161 11
128 11 A128del,
159 11 M159del,
237 11
126 11 H126D,
160 11 E160del, E160K, E160V,
133 11 V133I,
114 11
240 12 H240R, H240P,
202 12 D202N, D202H,
158 12
205 13 V205M,
113 13
209 13 S209P,
136 13
130 13
131 13
203 14 L203P,
241 14 V241F, V241I, V241G
176 14
243 14 R243H, R243C, R243P, R243S,
175 14 L175I,
210 14 M210I, M210I, M210I,
234 14 Q234H, Q234H,
124 14
135 14
110 14 V110I,
127 15 F127L, F127L, F127L,
207 15 V207M, V207L, V207L, V207L, V207L, V207del,
122 15 C122Y,
115 15 E115A, E115G,
233 15 L233P,
213 15