L5A (p.Leu5Ala) variant of TGFBR2 (TGF-beta receptor type-2)
L5A (p.Leu5Ala) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L5A (p.Leu5Ala) variant details
- p.Leu5Ala
- gnomAD 3-30606890-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available