KCNQ1 Variant P570L
Summary of observed carriers, functional annotations, and structural context for KCNQ1 P570L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
78%
10/14 effective observations
Total carriers
4
4 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 (%) |
|---|---|---|---|---|
| -6.76 | 0.049 | -4 | 0.697 | 82 |
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 |
|---|---|---|---|---|---|
| 32893267 | 2020 | 4 | None | 4 | None |
| Literature, cohort, and gnomAD | – | 4 | 0 | 4 | – |
| 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 |
|---|---|---|
| 570 | 0 | P570L, |
| 569 | 4 | K569E, |
| 571 | 4 | S571L, S571P, |
| 568 | 5 | G568R, G568R, G568E, |
| 572 | 5 | |
| 567 | 7 | I567T, I567S, |
| 573 | 7 | F573L, F573L, F573L, |
| 566 | 8 | S566F, S566Y, S566P, |
| 574 | 8 | I574V, |
| 565 | 8 | |
| 575 | 8 | |
| 564 | 9 | D564H, D564N, |
| 576 | 9 | V576I, |
| 563 | 10 | |
| 577 | 10 | |
| 562 | 11 | R562M, R562S, R562S, |
| 578 | 11 | E578K, E578V, |
| 561 | 11 | |
| 579 | 11 | |
| 560 | 12 | |
| 580 | 12 | S580G, S580N, |
| 559 | 13 | L559P, |
| 581 | 13 | |
| 558 | 13 | |
| 582 | 13 | |
| 557 | 14 | K557E, |
| 583 | 14 | R583H, R583C, R583G, |
| 556 | 14 | |
| 584 | 14 | G584S, |
| 555 | 15 | R555H, R555C, R555S, R555L, |
| 585 | 15 | S585N |