M1? variant of PRKN (O60260)
M1? in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M1? variant details
- rs772786691
- ClinGen CA4090564
- ClinVar RCV000585185
- ClinVar RCV001449634
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- MetaLR 0.77
- MetaSVM 0.54
- PolyPhen-2 0.88
- SIFT 1.00
- MutPred 0.93
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.907