G65R (p.Gly65Arg) variant of KCNJ5 (P48544)
G65R (p.Gly65Arg) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- TOPMed rs1356200702
- gnomAD rs1356200702
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.80
- MetaLR 0.89
- MetaSVM 0.97
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available