A7D (p.Ala7Asp) variant of TGFBR1 (TGF-beta receptor type-1)
A7D (p.Ala7Asp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 9-99105225-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available