R259H (p.Arg259His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R259H (p.Arg259His) 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 Long QT syndrome 1; Short QT syndrome type 2; KCNQ1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R259H (p.Arg259His) variant details
- p.Arg259His
- rs199472720
- ClinGen CA008184
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99325
- Pathogenic/Likely pathogenic
- Long QT syndrome 1; Short QT syndrome type 2; KCNQ1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome 1; Short QT syndrome type 2; KCNQ1-related diso)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)