G4A (p.Gly4Ala) variant of TGFBR2 (TGF-beta receptor type-2)
G4A (p.Gly4Ala) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- gnomAD 3-30606894-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available