A23G (p.Ala23Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A23G (p.Ala23Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- gnomAD 9-99105273-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available