D60A (p.Asp60Ala) variant of PARK7 (Parkinson disease protein 7)
D60A (p.Asp60Ala) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D60A (p.Asp60Ala) variant details
- p.Asp60Ala
- gnomAD 1-7965412-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.36
- MetaLR 0.43
- MetaSVM -0.36
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available