S3Y (p.Ser3Tyr) variant of PARK7 (Parkinson disease protein 7)
S3Y (p.Ser3Tyr) 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.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD 1-7962793-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- CADD 26.20
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available