L61M (p.Leu61Met) variant of PRKN (O60260)
L61M (p.Leu61Met) 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.
L61M (p.Leu61Met) variant details
- p.Leu61Met
- TOPMed rs1779948322
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.59
- MetaLR 0.41
- MetaSVM -0.17
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0074