A23E (p.Ala23Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A23E (p.Ala23Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- gnomAD 9-99105273-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.24
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00017)
- Structural context available
- Literature evidence available