Q57R (p.Gln57Arg) variant of KCNJ2 (P63252)
Q57R (p.Gln57Arg) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- TOPMed rs1273518954
- gnomAD rs1273518954
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.44
- MetaLR 0.60
- MetaSVM -0.05
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available