L5V (p.Leu5Val) variant of TGFBR2 (TGF-beta receptor type-2)
L5V (p.Leu5Val) 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.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 3-30606896-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.37
- CADD 26.70
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available