E21Q (p.Glu21Gln) variant of ACAN (Aggrecan core protein)
E21Q (p.Glu21Gln) 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 and structural context.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- ExAC rs754672128
- gnomAD rs754672128
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 23.50
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available