V83G (p.Val83Gly) variant of IDS (Iduronate 2-sulfatase)
V83G (p.Val83Gly) 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 Mucopolysaccharidosis, MPS-II; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
V83G (p.Val83Gly) variant details
- p.Val83Gly
- rs1569560525
- ClinGen CA414526958
- ClinVar RCV002535424
- ClinVar RCV005251181
- Conflicting interpretations
- Mucopolysaccharidosis, MPS-II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Conflicting classifications of pathogenicity (Mucopolysaccharidosis, MPS-II; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)