V7D (p.Val7Asp) variant of ACAN (Aggrecan core protein)
V7D (p.Val7Asp) in ACAN (Aggrecan core protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V7D (p.Val7Asp) variant details
- p.Val7Asp
- gnomAD 15-88836225-G-GAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available