G28R (p.Gly28Arg) variant of KCNJ3 (P48549)
G28R (p.Gly28Arg) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- cosmic curated COSV10459
- gnomAD rs1308324324
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available