M434T (p.Met434Thr) variant of PRKN (O60260)
M434T (p.Met434Thr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
M434T (p.Met434Thr) variant details
- p.Met434Thr
- rs1582953433
- ClinGen CA366456342
- ClinVar RCV000999646
- Ensembl rs1582953433
- Likely pathogenic
- Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Autosomal recessive juvenile Parkinson disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.681
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)