C43R (p.Cys43Arg) variant of KCNJ2 (P63252)
C43R (p.Cys43Arg) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C43R (p.Cys43Arg) variant details
- p.Cys43Arg
- cosmic curated COSV54660
- gnomAD rs1170369013
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available