L29L (p.Leu29Leu) variant of ACAN (Aggrecan core protein)
L29L (p.Leu29Leu) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- rs1438439224
- gnomAD 15-88838677-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 8.24
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available