V12A (p.Val12Ala) variant of KCNJ2 (P63252)
V12A (p.Val12Ala) in KCNJ2 (P63252) 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.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 17-70175074-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.73
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available