W17S (p.Trp17Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17S (p.Trp17Ser) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
W17S (p.Trp17Ser) variant details
- p.Trp17Ser
- gnomAD 11-2445148-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 0.51
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available