V15M (p.Val15Met) variant of PRKN (O60260)
V15M (p.Val15Met) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PARK2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs532703934
- UniProt VAR 019733
- 1000Genomes rs532703934
- ExAC rs532703934
- Pathogenic
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.70
- MetaLR 0.64
- MetaSVM 0.38
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.09
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.228
- Cited in: Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. (PMID 12397156)
- Cited in: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French… (PMID 10072423)