R190W (p.Arg190Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R190W (p.Arg190Trp) 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; Cardiac arrhythmia; Atrial fibrillation, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R190W (p.Arg190Trp) variant details
- p.Arg190Trp
- rs199473662
- ClinGen CA007529
- cosmic curated COSV50121
- ClinVar RCV000057705
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiac arrhythmia; Atrial fibrillation, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.08
- CADD 24.80
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiac arrhythmia; Atrial fibrillation, famil)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)