I37T (p.Ile37Thr) variant of TGFBR2 (TGF-beta receptor type-2)
I37T (p.Ile37Thr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I37T (p.Ile37Thr) variant details
- p.Ile37Thr
- gnomAD 3-30644762-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.28
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available