L27A (p.Leu27Ala) variant of TGFBR1 (TGF-beta receptor type-1)
L27A (p.Leu27Ala) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L27A (p.Leu27Ala) variant details
- p.Leu27Ala
- gnomAD 9-99105282-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available