A27V (p.Ala27Val) variant of KCNQ5 (Q9NR82)
A27V (p.Ala27Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 6-72622269-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.43
- CADD 20.70
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available