Q51* (p.Gln51Ter) variant of PLAT (P00750)
Q51* (p.Gln51Ter) in PLAT (P00750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- TOPMed rs1473282981
- gnomAD rs1473282981
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.904
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available