R8S (p.Arg8Ser) variant of KCNJ2 (P63252)
R8S (p.Arg8Ser) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 17-70175061-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.88
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available