A6V (p.Ala6Val) variant of PARK7 (Parkinson disease protein 7)
A6V (p.Ala6Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- ExAC rs773313843
- TOPMed rs773313843
- gnomAD rs773313843
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.58
- CADD 27.10
- PolyPhen-2 0.71
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available