L27M (p.Leu27Met) variant of TGFBR1 (TGF-beta receptor type-1)
L27M (p.Leu27Met) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 9-99105284-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available