G29V (p.Gly29Val) variant of KCNQ5 (Q9NR82)
G29V (p.Gly29Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- gnomAD 6-72622275-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available