A23V (p.Ala23Val) variant of KCNQ5 (Q9NR82)
A23V (p.Ala23Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 6-72622257-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available