A21G (p.Ala21Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A21G (p.Ala21Gly) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- gnomAD 9-99105264-CGGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available