R174H (p.Arg174His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R174H (p.Arg174His) 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 not provided; Long QT syndrome 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R174H (p.Arg174His) variant details
- p.Arg174His
- rs199472697
- ClinGen CA007329
- ClinVar RCV000057690
- ClinVar RCV000223741
- Pathogenic/Likely pathogenic
- not provided; Long QT syndrome 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Long QT syndrome 1; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. (PMID 10367071)
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)