A3R (p.Ala3Arg) variant of TGFBR1 (TGF-beta receptor type-1)
A3R (p.Ala3Arg) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A3R (p.Ala3Arg) variant details
- p.Ala3Arg
- gnomAD 9-99105210-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available