C59F (p.Cys59Phe) variant of PRKN (O60260)
C59F (p.Cys59Phe) 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.
C59F (p.Cys59Phe) variant details
- p.Cys59Phe
- cosmic curated COSV58277
- gnomAD rs1428787131
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.66
- MetaLR 0.48
- MetaSVM -0.02
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.042)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.56