C84* (p.Cys84Ter) variant of IDS (Iduronate 2-sulfatase)
C84* (p.Cys84Ter) in IDS (Iduronate 2-sulfatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
C84* (p.Cys84Ter) variant details
- p.Cys84Ter
- rs1557340286
- ClinGen CA414526935
- ClinVar RCV000593133
- ClinVar RCV004596301
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.81
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)