L17M (p.Leu17Met) variant of TGFBR1 (TGF-beta receptor type-1)
L17M (p.Leu17Met) in TGFBR1 (TGF-beta receptor type-1) 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.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 9-99105254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.67
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available