A2D (p.Ala2Asp) variant of PARK7 (Parkinson disease protein 7)
A2D (p.Ala2Asp) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 1-7962790-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available