N42D (p.Asn42Asp) variant of PLAU (P00749)
N42D (p.Asn42Asp) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N42D (p.Asn42Asp) variant details
- p.Asn42Asp
- gnomAD 10-73912253-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.29
- MetaLR 0.36
- MetaSVM -0.59
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available