A24V (p.Ala24Val) variant of KCNQ5 (Q9NR82)
A24V (p.Ala24Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 6-72622260-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available