L12M (p.Leu12Met) variant of TGFBR2 (TGF-beta receptor type-2)
L12M (p.Leu12Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 3-30606917-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available