L12L (p.Leu12Leu) variant of TGFBR1 (TGF-beta receptor type-1)
L12L (p.Leu12Leu) in TGFBR1 (TGF-beta receptor type-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 9-99105239-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available