L42L (p.Leu42Leu) variant of ACAN (Aggrecan core protein)
L42L (p.Leu42Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1189816083
- gnomAD 15-88838718-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 5.92
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available