R231H (p.Arg231His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R231H (p.Arg231His) 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 not provided; Atrial fibrillation, familial, 3; Cardiovascular phenotype. 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.
R231H (p.Arg231His) variant details
- p.Arg231His
- rs199472709
- ClinGen CA007925
- cosmic curated COSV50099
- ClinVar RCV000046107
- Pathogenic
- not provided; Atrial fibrillation, familial, 3; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.04
- CADD 27.10
- ClinVar: Pathogenic (not provided; Atrial fibrillation, familial, 3; Cardiovascular p)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. (PMID 18452873)