L11L (p.Leu11Leu) variant of ACAN (Aggrecan core protein)
L11L (p.Leu11Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs1383270733
- gnomAD 15-88836237-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available