S65S (p.Ser65Ser) variant of ACAN (Aggrecan core protein)
S65S (p.Ser65Ser) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S65S (p.Ser65Ser) variant details
- p.Ser65Ser
- rs779210441
- gnomAD 15-88838787-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 6.79
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available