N42S (p.Asn42Ser) variant of PLAU (P00749)
N42S (p.Asn42Ser) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- gnomAD rs1457375765
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.29
- MetaLR 0.33
- MetaSVM -0.70
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available