A29V (p.Ala29Val) variant of PARK7 (Parkinson disease protein 7)
A29V (p.Ala29Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- ESP rs376428939
- ExAC rs376428939
- TOPMed rs376428939
- gnomAD rs376428939
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.75
- CADD 31.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available