D86Y (p.Asp86Tyr) variant of PRKN (O60260)
D86Y (p.Asp86Tyr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D86Y (p.Asp86Tyr) variant details
- p.Asp86Tyr
- TOPMed rs747891099
- gnomAD rs747891099
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.30
- MetaLR 0.45
- MetaSVM -0.44
- CADD 13.10
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.995