A22T (p.Ala22Thr) variant of KCNJ2 (P63252)
A22T (p.Ala22Thr) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD 17-70175103-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.07
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available