L12P (p.Leu12Pro) variant of TGFBR2 (TGF-beta receptor type-2)
L12P (p.Leu12Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 3-30606918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- CADD 29.20
- PolyPhen-2 0.13
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available