A7T (p.Ala7Thr) variant of TGFBR1 (TGF-beta receptor type-1)
A7T (p.Ala7Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD 9-99105224-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available