Q47* (p.Gln47Ter) variant of PLAT (P00750)
Q47* (p.Gln47Ter) in PLAT (P00750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- TOPMed rs1213656235
- gnomAD rs1213656235
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 36.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available