M1T (p.Met1Thr) variant of PRKN (O60260)
M1T (p.Met1Thr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant Parkinson disease 1; Autosomal recessive juvenile Parkinson d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs771586218
- ClinGen CA4090563
- ClinVar RCV000992706
- ClinVar RCV001784521
- Pathogenic/Likely pathogenic
- Autosomal dominant Parkinson disease 1; Autosomal recessive juvenile Parkinson d
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Parkinson disease 1; Autosomal recessive juve)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.907
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)