A22R (p.Ala22Arg) variant of TGFBR1 (TGF-beta receptor type-1)
A22R (p.Ala22Arg) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A22R (p.Ala22Arg) variant details
- p.Ala22Arg
- gnomAD 9-99105267-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available