M434I (p.Met434Ile) variant of PRKN (O60260)
M434I (p.Met434Ile) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive juvenile Parkinson disease 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M434I (p.Met434Ile) variant details
- p.Met434Ile
- rs949479970
- ClinGen CA151429477
- cosmic curated COSV10063
- ClinVar RCV001332482
- Uncertain significance
- Autosomal recessive juvenile Parkinson disease 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.78
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Autosomal recessive juvenile Parkinson disease 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0019)
- 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)