A302V (p.Ala302Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A302V (p.Ala302Val) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A302V (p.Ala302Val) variant details
- p.Ala302Val
- rs193922365
- ClinGen CA008587
- ClinVar RCV000030111
- ClinVar RCV000057792
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)