F8Y (p.Phe8Tyr) variant of ACAN (Aggrecan core protein)
F8Y (p.Phe8Tyr) in ACAN (Aggrecan core protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F8Y (p.Phe8Tyr) variant details
- p.Phe8Tyr
- gnomAD 15-88836227-T-TTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available