G85C (p.Gly85Cys) variant of PRKN (O60260)
G85C (p.Gly85Cys) in PRKN (O60260) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G85C (p.Gly85Cys) variant details
- p.Gly85Cys
- rs1042122187
- TOPMed rs1042122187
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.30
- MetaLR 0.63
- MetaSVM -0.23
- CADD 15.30
- PolyPhen-2 0.62
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:UYGUR population (allele frequency 0.1)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02