G4E (p.Gly4Glu) variant of TGFBR2 (TGF-beta receptor type-2)
G4E (p.Gly4Glu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- gnomAD 3-30606894-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available