R25W (p.Arg25Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25W (p.Arg25Trp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- gnomAD 11-2445171-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.49
- ESM-1b 0.27
- AlphaMissense 0.18
- MetaLR 0.94
- MetaSVM 0.88
- CADD 26.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available