M1T (p.Met1Thr) variant of IDS (Iduronate 2-sulfatase)
M1T (p.Met1Thr) 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 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.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2124069617
- ClinGen CA414528847
- ClinVar RCV001965495
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- MetaLR 0.92
- MetaSVM 0.76
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)