A22V (p.Ala22Val) variant of KCNQ5 (Q9NR82)
A22V (p.Ala22Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 6-72622254-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.39
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available