A20R (p.Ala20Arg) variant of TGFBR1 (TGF-beta receptor type-1)
A20R (p.Ala20Arg) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A20R (p.Ala20Arg) variant details
- p.Ala20Arg
- gnomAD 9-99105261-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available