A370V (p.Ala370Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A370V (p.Ala370Val) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, fam. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A370V (p.Ala370Val) variant details
- p.Ala370Val
- rs775362401
- ClinGen CA027096
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99325
- Conflicting interpretations
- Long QT syndrome; Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, fam
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.97
- MetaSVM 1.07
- CADD 25.00
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Jervell and Lange-Nielsen syndrome 1; Atrial f)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)