D35D (p.Asp35Asp) variant of TGFBR2 (TGF-beta receptor type-2)
D35D (p.Asp35Asp) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D35D (p.Asp35Asp) variant details
- p.Asp35Asp
- gnomAD 3-30623200-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available