A344V (p.Ala344Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A344V (p.Ala344Val) 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 Cardiac arrhythmia; Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A344V (p.Ala344Val) variant details
- p.Ala344Val
- rs199472763
- ClinGen CA004967
- ClinVar RCV000057534
- ClinVar RCV000223824
- Pathogenic
- Cardiac arrhythmia; Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 33.00
- ClinVar: Pathogenic (Cardiac arrhythmia; Long QT syndrome; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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 of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)