W15L (p.Trp15Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W15L (p.Trp15Leu) 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.
W15L (p.Trp15Leu) variant details
- p.Trp15Leu
- gnomAD 11-2445142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.88
- MetaSVM 0.23
- CADD 18.60
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available