R48C (p.Arg48Cys) variant of IDS (Iduronate 2-sulfatase)
R48C (p.Arg48Cys) 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 specified; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs1412895796
- ClinGen CA414527742
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61712
- Conflicting interpretations
- not specified; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.47
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Conflicting classifications of pathogenicity (not specified; Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)