C53G (p.Cys53Gly) variant of KCNJ3 (P48549)
C53G (p.Cys53Gly) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C53G (p.Cys53Gly) variant details
- p.Cys53Gly
- Ensembl rs1574424637
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available