D55Y (p.Asp55Tyr) variant of ACAN (Aggrecan core protein)
D55Y (p.Asp55Tyr) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- ExAC rs763861381
- TOPMed rs763861381
- gnomAD rs763861381
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.10
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available