A25V (p.Ala25Val) variant of KCNJ2 (P63252)
A25V (p.Ala25Val) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 17-70175113-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.08
- CADD 21.70
- PolyPhen-2 0.41
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available