W17* (p.Trp17Ter) variant of TGFBR2 (TGF-beta receptor type-2)
W17* (p.Trp17Ter) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- gnomAD 3-30606934-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available