L32W (p.Leu32Trp) variant of KCNQ5 (Q9NR82)
L32W (p.Leu32Trp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L32W (p.Leu32Trp) variant details
- p.Leu32Trp
- gnomAD 6-72622284-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.50
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available