R101H (p.Arg101His) variant of IDS (Iduronate 2-sulfatase)
R101H (p.Arg101His) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R101H (p.Arg101His) variant details
- p.Arg101His
- rs1391120386
- ClinGen CA414526526
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.72
- CADD 20.50
- PolyPhen-2 0.17
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0071)
- 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)