N47D (p.Asn47Asp) variant of PLAU (P00749)
N47D (p.Asn47Asp) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- gnomAD 10-73912268-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.17
- MetaLR 0.39
- MetaSVM -0.73
- CADD 9.49
- PolyPhen-2 0.03
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available