T18A (p.Thr18Ala) variant of TGFBR2 (TGF-beta receptor type-2)
T18A (p.Thr18Ala) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD 3-30606935-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available