G2D (p.Gly2Asp) variant of TGFBR2 (TGF-beta receptor type-2)
G2D (p.Gly2Asp) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- gnomAD 3-30606888-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.51
- CADD 26.70
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available