A82T (p.Ala82Thr) variant of IDS (Iduronate 2-sulfatase)
A82T (p.Ala82Thr) 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 not specified. The record also includes structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- rs2520897215
- ClinGen CA414526988
- ClinVar RCV004526464
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Structural context available