C78* (p.Cys78Ter) variant of PLAT (P00750)
C78* (p.Cys78Ter) in PLAT (P00750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C78* (p.Cys78Ter) variant details
- p.Cys78Ter
- gnomAD rs1339393400
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available