L12C (p.Leu12Cys) variant of TGFBR1 (TGF-beta receptor type-1)
L12C (p.Leu12Cys) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12C (p.Leu12Cys) variant details
- p.Leu12Cys
- gnomAD 9-99105236-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available