R11L (p.Arg11Leu) variant of TGFBR1 (TGF-beta receptor type-1)
R11L (p.Arg11Leu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 9-99105237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.19
- CADD 7.35
- PolyPhen-2 0.01
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available