A29G (p.Ala29Gly) variant of PARK7 (Parkinson disease protein 7)
A29G (p.Ala29Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- ESP rs376428939
- ExAC rs376428939
- TOPMed rs376428939
- gnomAD rs376428939
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available