S30N (p.Ser30Asn) variant of ACAN (Aggrecan core protein)
S30N (p.Ser30Asn) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- rs1324649266
- ClinGen CA393714709
- ClinVar RCV002299602
- TOPMed rs1324649266
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 25.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available