L9L (p.Leu9Leu) variant of TGFBR2 (TGF-beta receptor type-2)
L9L (p.Leu9Leu) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- rs748246142
- gnomAD 3-30606908-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 15.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available