E21K (p.Glu21Lys) variant of ACAN (Aggrecan core protein)
E21K (p.Glu21Lys) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD 15-88836267-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 23.10
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available