R9W (p.Arg9Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9W (p.Arg9Trp) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- gnomAD 11-2445123-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.38
- ESM-1b 0.03
- AlphaMissense 0.23
- MetaLR 0.94
- MetaSVM 0.89
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available