A20G (p.Ala20Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A20G (p.Ala20Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 9-99105264-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.11
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available