G4R (p.Gly4Arg) variant of TGFBR2 (TGF-beta receptor type-2)
G4R (p.Gly4Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 3-30606893-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available