G77C (p.Gly77Cys) variant of PRKN (O60260)
G77C (p.Gly77Cys) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G77C (p.Gly77Cys) variant details
- p.Gly77Cys
- gnomAD rs1779944769
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.20
- MetaLR 0.44
- MetaSVM -0.47
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.997