A82V (p.Ala82Val) variant of PRKN (O60260)
A82V (p.Ala82Val) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in PARK2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- cosmic curated COSV10591
- 1000Genomes rs55774500
- ESP rs55774500
- ExAC rs55774500
- Benign
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- MetaLR 0.27
- MetaSVM -0.80
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Benign (in PARK2)
- UniProt: Benign (in PARK2)
- Most common in the African/African-American population (allele frequency 9.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.999