C33* (p.Cys33Ter) variant of PLAU (P00749)
C33* (p.Cys33Ter) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C33* (p.Cys33Ter) variant details
- p.Cys33Ter
- rs1246794053
- gnomAD 10-73912224-ACTGT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available