L4L (p.Leu4Leu) variant of ACAN (Aggrecan core protein)
L4L (p.Leu4Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs1896499388
- gnomAD 15-88836216-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 10.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available