V70G (p.Val70Gly) variant of PRKN (O60260)
V70G (p.Val70Gly) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V70G (p.Val70Gly) variant details
- p.Val70Gly
- ExAC rs760555216
- gnomAD rs760555216
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.91
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.483