C53S (p.Cys53Ser) variant of PLAU (P00749)
C53S (p.Cys53Ser) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C53S (p.Cys53Ser) variant details
- p.Cys53Ser
- gnomAD rs1434596738
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.55
- MetaLR 0.59
- MetaSVM 0.47
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available