D17V (p.Asp17Val) variant of PLAU (P00749)
D17V (p.Asp17Val) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- gnomAD 10-73911605-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.79
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available