A24T (p.Ala24Thr) variant of TGFBR1 (TGF-beta receptor type-1)
A24T (p.Ala24Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 9-99105275-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.31
- CADD 21.30
- PolyPhen-2 0.48
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available