A24E (p.Ala24Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A24E (p.Ala24Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- gnomAD 9-99105276-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 18.50
- PolyPhen-2 0.73
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available