S30S (p.Ser30Ser) variant of ACAN (Aggrecan core protein)
S30S (p.Ser30Ser) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- gnomAD 15-88838682-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available