W17C (p.Trp17Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17C (p.Trp17Cys) 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.
W17C (p.Trp17Cys) variant details
- p.Trp17Cys
- gnomAD 11-2445149-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.90
- MetaSVM 0.34
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available