G62R (p.Gly62Arg) variant of CYP2C8 (Cytochrome P450 2C8)
G62R (p.Gly62Arg) in CYP2C8 (Cytochrome P450 2C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- rs1402775528
- ClinGen CA377684265
- ClinVar RCV004367920
- TOPMed rs1402775528
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available