R190L (p.Arg190Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R190L (p.Arg190Leu) 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 Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
R190L (p.Arg190Leu) variant details
- p.Arg190Leu
- rs120074178
- ClinGen CA007551
- cosmic curated COSV10584
- ClinVar RCV000057707
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)