R19C (p.Arg19Cys) variant of TGFBR2 (TGF-beta receptor type-2)
R19C (p.Arg19Cys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- gnomAD 3-30606938-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.40
- CADD 24.90
- PolyPhen-2 0.09
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available