G7V (p.Gly7Val) variant of KCNQ5 (Q9NR82)
G7V (p.Gly7Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD 6-72622209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- CADD 27.40
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available