R101C (p.Arg101Cys) variant of IDS (Iduronate 2-sulfatase)
R101C (p.Arg101Cys) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs782738754
- ClinGen CA10537707
- ClinVar RCV000353621
- ClinVar RCV001088215
- Conflicting interpretations
- not provided; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.93
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Mucopolysaccharidosis, MPS-II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.015)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)