W17R (p.Trp17Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17R (p.Trp17Arg) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- gnomAD 11-2445147-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.87
- MetaSVM 0.42
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available