R507W (p.Arg507Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R507W (p.Arg507Trp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 1; Short QT syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R507W (p.Arg507Trp) variant details
- p.Arg507Trp
- rs767882075
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99328
- ExAC rs767882075
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 1; Short QT syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 27.20
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available