L17L (p.Leu17Leu) variant of TGFBR1 (TGF-beta receptor type-1)
L17L (p.Leu17Leu) in TGFBR1 (TGF-beta receptor type-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs878854714
- gnomAD 9-99105254-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 13.50
- Most common in the Latino/Admixed American population (allele frequency 0.0012)
- Structural context available
- Literature evidence available