D17Y (p.Asp17Tyr) variant of PLAU (P00749)
D17Y (p.Asp17Tyr) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- gnomAD 10-73911604-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.23
- CADD 22.20
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available