S46C (p.Ser46Cys) variant of PLAU (P00749)
S46C (p.Ser46Cys) in PLAU (P00749) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- NCI-TCGA Cosmic COSV1010
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.62
- MetaLR 0.86
- MetaSVM 0.91
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available