N22S (p.Asn22Ser) variant of PLAU (P00749)
N22S (p.Asn22Ser) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- TOPMed rs934075837
- gnomAD rs934075837
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.70
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available