R29* (p.Arg29Ter) variant of PLAT (P00750)
R29* (p.Arg29Ter) in PLAT (P00750) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54275
- TOPMed rs1244225099
- gnomAD rs1244225099
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available