D17N (p.Asp17Asn) variant of PLAU (P00749)
D17N (p.Asp17Asn) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- ExAC rs745821284
- TOPMed rs745821284
- gnomAD rs745821284
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.14
- MetaLR 0.39
- MetaSVM -0.76
- CADD 12.40
- PolyPhen-2 0.08
- SIFT 0.62
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available