D26E (p.Asp26Glu) variant of ACAN (Aggrecan core protein)
D26E (p.Asp26Glu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- TOPMed rs1250848987
- gnomAD rs1250848987
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 19.70
- PolyPhen-2 0.60
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)