R9G (p.Arg9Gly) variant of TGFBR1 (TGF-beta receptor type-1)
R9G (p.Arg9Gly) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 9-99105219-TCGCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available