G2V (p.Gly2Val) variant of TGFBR2 (TGF-beta receptor type-2)
G2V (p.Gly2Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 3-30606888-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.48
- CADD 26.50
- PolyPhen-2 0.32
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available