L5M (p.Leu5Met) variant of TGFBR2 (TGF-beta receptor type-2)
L5M (p.Leu5Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 3-30606896-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- CADD 26.90
- PolyPhen-2 0.25
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available