C33S (p.Cys33Ser) variant of PLAU (P00749)
C33S (p.Cys33Ser) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PLAU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C33S (p.Cys33Ser) variant details
- p.Cys33Ser
- TOPMed rs1200077098
- gnomAD rs1200077098
- Uncertain significance
- PLAU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.77
- MetaLR 0.14
- MetaSVM -0.88
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (PLAU-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available