L43L (p.Leu43Leu) variant of ACAN (Aggrecan core protein)
L43L (p.Leu43Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs770715922
- gnomAD 15-88838721-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 4.35
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available