A85T (p.Ala85Thr) variant of IDS (Iduronate 2-sulfatase)
A85T (p.Ala85Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- rs113993949
- ClinGen CA331781
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- Pathogenic/Likely pathogenic
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.71
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. (PMID 8940265)
- Cited in: Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease. (PMID 9452044)