A25V (p.Ala25Val) variant of KCNQ4 (P56696)
A25V (p.Ala25Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 1-40784167-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.37
- MetaLR 0.86
- MetaSVM 0.62
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available