W17G (p.Trp17Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17G (p.Trp17Gly) 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.
W17G (p.Trp17Gly) variant details
- p.Trp17Gly
- gnomAD 11-2445147-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.88
- MetaSVM 0.46
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available