p.Leu69 Pro71del variant of ACAN (Aggrecan core protein)
p.Leu69 Pro71del in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu69 Pro71del variant details
- gnomAD 15-88838790-CGCCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available