D55N (p.Asp55Asn) variant of ACAN (Aggrecan core protein)
D55N (p.Asp55Asn) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- ExAC rs763861381
- TOPMed rs763861381
- gnomAD rs763861381
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 22.00
- PolyPhen-2 0.17
- SIFT 0.24
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available