A18E (p.Ala18Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A18E (p.Ala18Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 9-99105258-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.27
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available