S3R (p.Ser3Arg) variant of KCNJ2 (P63252)
S3R (p.Ser3Arg) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- gnomAD 17-70175048-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.26
- MetaLR 0.08
- MetaSVM -1.10
- CADD 18.20
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available