D60N (p.Asp60Asn) variant of PRKN (O60260)
D60N (p.Asp60Asn) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- gnomAD rs1197520335
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.60
- MetaLR 0.77
- MetaSVM 0.75
- CADD 26.10
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.592