H27T (p.His27Thr) variant of TGFBR2 (TGF-beta receptor type-2)
H27T (p.His27Thr) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
H27T (p.His27Thr) variant details
- p.His27Thr
- gnomAD 3-30606960-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available