E2D (p.Glu2Asp) variant of TGFBR1 (TGF-beta receptor type-1)
E2D (p.Glu2Asp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 9-99105211-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.23
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available