G58C (p.Gly58Cys) variant of KCNJ3 (P48549)
G58C (p.Gly58Cys) 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.
G58C (p.Gly58Cys) variant details
- p.Gly58Cys
- TOPMed rs1324602706
- gnomAD rs1324602706
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.87
- CADD 29.30
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available