R79* (p.Arg79Ter) variant of PLAU (P00749)
R79* (p.Arg79Ter) in PLAU (P00749) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R79* (p.Arg79Ter) variant details
- p.Arg79Ter
- cosmic curated COSV65641
- ExAC rs757780690
- gnomAD rs757780690
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available