W17L (p.Trp17Leu) variant of KCNQ5 (Q9NR82)
W17L (p.Trp17Leu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
W17L (p.Trp17Leu) variant details
- p.Trp17Leu
- gnomAD 6-72622239-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.48
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available