G15V (p.Gly15Val) variant of KCNQ5 (Q9NR82)
G15V (p.Gly15Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 6-72622233-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.70
- CADD 27.30
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available