P37L (p.Pro37Leu) variant of PRKN (O60260)
P37L (p.Pro37Leu) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs148990138
- ClinGen CA4090511
- cosmic curated COSV58248
- ClinVar RCV001090783
- Conflicting interpretations
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- MetaLR 0.65
- MetaSVM 0.34
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.743
- Cited in: Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. (PMID 12112109)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)