R493H (p.Arg493His) variant of IDS (Iduronate 2-sulfatase)
R493H (p.Arg493His) 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; Inborn genetic diseases; Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R493H (p.Arg493His) variant details
- p.Arg493His
- rs782347729
- ClinGen CA10537440
- ClinVar RCV001243617
- ClinVar RCV001829038
- Conflicting interpretations
- not specified; Inborn genetic diseases; Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.94
- AlphaMissense 0.31
- MetaLR 1.00
- MetaSVM 0.89
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; Mucopolysaccharidosis, M)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)