L11M (p.Leu11Met) variant of ACAN (Aggrecan core protein)
L11M (p.Leu11Met) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 15-88836237-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available