D60V (p.Asp60Val) variant of PARK7 (Parkinson disease protein 7)
D60V (p.Asp60Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D60V (p.Asp60Val) variant details
- p.Asp60Val
- gnomAD 1-7965412-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.60
- MetaLR 0.61
- MetaSVM 0.14
- CADD 26.40
- PolyPhen-2 0.27
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available