A92V (p.Ala92Val) variant of PRKN (O60260)
A92V (p.Ala92Val) 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 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- rs566229879
- cosmic curated COSV58225
- UniProt VAR 019739
- 1000Genomes rs566229879
- Pathogenic
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.63
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.976
- Cited in: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French… (PMID 10072423)
- Cited in: Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID 10824074)