L16M (p.Leu16Met) variant of TGFBR2 (TGF-beta receptor type-2)
L16M (p.Leu16Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 3-30606929-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.27
- CADD 24.80
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available