p.Ser65 Pro68del variant of ACAN (Aggrecan core protein)
p.Ser65 Pro68del in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser65 Pro68del variant details
- rs771754676
- gnomAD 15-88838775-CACCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 16.70
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available