L47L (p.Leu47Leu) variant of ACAN (Aggrecan core protein)
L47L (p.Leu47Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs368322348
- gnomAD 15-88838733-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 8.56
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available