R11G (p.Arg11Gly) variant of TGFBR1 (TGF-beta receptor type-1)
R11G (p.Arg11Gly) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- gnomAD 9-99105232-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available