D26N (p.Asp26Asn) variant of ACAN (Aggrecan core protein)
D26N (p.Asp26Asn) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- gnomAD 15-88838668-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 24.30
- PolyPhen-2 0.68
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00012)
- Literature evidence available