Y52C (p.Tyr52Cys) variant of ACAN (Aggrecan core protein)
Y52C (p.Tyr52Cys) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y52C (p.Tyr52Cys) variant details
- p.Tyr52Cys
- gnomAD 15-88838747-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available