A6T (p.Ala6Thr) variant of TGFBR1 (TGF-beta receptor type-1)
A6T (p.Ala6Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 9-99105221-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.38
- CADD 25.20
- PolyPhen-2 0.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available