G134E (p.Gly134Glu) variant of IDS (Iduronate 2-sulfatase)
G134E (p.Gly134Glu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G134E (p.Gly134Glu) variant details
- p.Gly134Glu
- rs193302910
- ClinGen CA350842
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61711
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 1.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)