W17L (p.Trp17Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17L (p.Trp17Leu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W17L (p.Trp17Leu) variant details
- p.Trp17Leu
- gnomAD 11-2445141-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available