A341V (p.Ala341Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A341V (p.Ala341Val) 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 in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A341V (p.Ala341Val) variant details
- p.Ala341Val
- rs12720459
- ClinGen CA004897
- cosmic curated COSV50102
- ClinVar RCV000003269
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)