Q29* (p.Gln29Ter) variant of TGFBR2 (TGF-beta receptor type-2)
Q29* (p.Gln29Ter) in TGFBR2 (TGF-beta receptor type-2) 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 0.73 / 1. The record also includes population frequency data and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- NCI-TCGA Cosmic COSV9984
- cosmic curated COSV99847
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available