V56M (p.Val56Met) variant of PRKN (O60260)
V56M (p.Val56Met) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V56M (p.Val56Met) variant details
- p.Val56Met
- ESP rs145942836
- ExAC rs145942836
- TOPMed rs145942836
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.42
- MetaLR 0.86
- MetaSVM 0.82
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0088