R48H (p.Arg48His) variant of IDS (Iduronate 2-sulfatase)
R48H (p.Arg48His) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 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 and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61711
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available