V36F (p.Val36Phe) variant of PRKN (O60260)
V36F (p.Val36Phe) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V36F (p.Val36Phe) variant details
- p.Val36Phe
- cosmic curated COSV58281
- TOPMed rs1468779980
- gnomAD rs1468779980
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.64
- MetaLR 0.61
- MetaSVM 0.25
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.533