L12M (p.Leu12Met) variant of TGFBR1 (TGF-beta receptor type-1)
L12M (p.Leu12Met) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 9-99105239-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available