D49Y (p.Asp49Tyr) variant of PARK7 (Parkinson disease protein 7)
D49Y (p.Asp49Tyr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- gnomAD 1-7965378-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.63
- MetaLR 0.77
- MetaSVM 0.66
- CADD 27.40
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available