S28S (p.Ser28Ser) variant of ACAN (Aggrecan core protein)
S28S (p.Ser28Ser) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- gnomAD 15-88838676-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0838
- CADD 0.44
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Literature evidence available