A6D (p.Ala6Asp) variant of TGFBR1 (TGF-beta receptor type-1)
A6D (p.Ala6Asp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 9-99105222-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.49
- CADD 24.10
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available