A21P (p.Ala21Pro) variant of TGFBR2 (TGF-beta receptor type-2)
A21P (p.Ala21Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD 3-30606944-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- CADD 26.90
- PolyPhen-2 0.10
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available