G4V (p.Gly4Val) variant of TGFBR2 (TGF-beta receptor type-2)
G4V (p.Gly4Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- gnomAD 3-30606894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available