D87N (p.Asp87Asn) variant of PRKN (O60260)
D87N (p.Asp87Asn) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D87N (p.Asp87Asn) variant details
- p.Asp87Asn
- cosmic curated COSV10524
- ExAC rs754657726
- gnomAD rs754657726
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.65
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.948