S45R (p.Ser45Arg) variant of KCNJ2 (P63252)
S45R (p.Ser45Arg) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S45R (p.Ser45Arg) variant details
- p.Ser45Arg
- gnomAD 17-70175174-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.06
- CADD 21.20
- PolyPhen-2 0.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available