D60V (p.Asp60Val) variant of PRKN (O60260)
D60V (p.Asp60Val) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D60V (p.Asp60Val) variant details
- p.Asp60Val
- Ensembl rs2128100175
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.85
- MetaLR 0.91
- MetaSVM 1.05
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.592