KCNQ1 Variant L203P
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L203P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
70%
7/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 6 individuals with LQT1 and 4 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -6.05 | 1.0 | -4 | 0.971 | 74 |
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
| Source | Year | Carriers | Unaffected | LQT1 | Other Disease |
|---|---|---|---|---|---|
| 21459285 | 2011 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| Variant features alone | – | 15 | 4 | 6 | – |
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 |
|---|---|---|
| 203 | 0 | L203P, |
| 204 | 5 | I204M, I204F, |
| 206 | 5 | V206L, |
| 202 | 5 | D202N, D202H, |
| 207 | 6 | V207M, V207L, V207L, V207L, V207L, V207del |
| 171 | 6 | |
| 200 | 6 | |
| 205 | 6 | V205M, |
| 199 | 7 | S199A, |
| 201 | 7 | I201del, |
| 194 | 8 | A194P, A194T, |
| 168 | 9 | G168R, G168R, G168R, G168R, |
| 208 | 9 | A208V, |
| 209 | 10 | S209P, |
| 198 | 10 | I198V, I198T, |
| 210 | 10 | M210I, M210I, M210I, |
| 167 | 10 | |
| 175 | 10 | L175I, |
| 172 | 10 | V172M, V172E, |
| 240 | 11 | H240R, H240P, |
| 164 | 11 | |
| 197 | 11 | P197L, |
| 233 | 11 | L233P, |
| 174 | 11 | R174H, R174C, R174L, |
| 193 | 11 | F193L, F193L, F193L, |
| 170 | 11 | |
| 236 | 12 | L236Q, L236R, |
| 237 | 12 | |
| 196 | 12 | |
| 169 | 12 | T169M, T169R, |
| 211 | 12 | |
| 195 | 12 | R195Q, R195W, |
| 191 | 12 | |
| 165 | 13 | V165M, |
| 239 | 13 | |
| 173 | 14 | |
| 243 | 14 | R243H, R243C, R243P, R243S, |
| 166 | 14 | F166V, |
| 190 | 14 | R190W, R190Q, R190L, |
| 212 | 14 | |
| 232 | 14 | |
| 163 | 14 | |
| 176 | 15 | |
| 213 | 15 |