V56E (p.Val56Glu) variant of PRKN (O60260)
V56E (p.Val56Glu) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V56E (p.Val56Glu) variant details
- p.Val56Glu
- rs137853059
- ClinGen CA254085
- cosmic curated COSV58212
- ClinVar RCV000007463
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.91
- MetaLR 0.92
- MetaSVM 1.06
- CADD 27.40
- PolyPhen-2 0.81
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0088
- Cited in: Molecular findings in familial Parkinson disease in Spain. (PMID 12056932)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)