P50S (p.Pro50Ser) variant of ACAN (Aggrecan core protein)
P50S (p.Pro50Ser) 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 record also includes structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs2505221247
- ClinGen CA393714821
- ClinVar RCV003710929
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available