L16P (p.Leu16Pro) variant of TGFBR2 (TGF-beta receptor type-2)
L16P (p.Leu16Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 3-30606930-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available