P97A (p.Pro97Ala) variant of IDS (Iduronate 2-sulfatase)
P97A (p.Pro97Ala) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis, MPS-III-A. The record also includes structural context.
P97A (p.Pro97Ala) variant details
- p.Pro97Ala
- gnomAD rs1557340273
- Uncertain significance
- Mucopolysaccharidosis, MPS-III-A
- Missense
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-III-A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available