L32V (p.Leu32Val) variant of KCNQ5 (Q9NR82)
L32V (p.Leu32Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- gnomAD 6-72622283-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.34
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available