R96G (p.Arg96Gly) variant of IDS (Iduronate 2-sulfatase)
R96G (p.Arg96Gly) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R96G (p.Arg96Gly) variant details
- p.Arg96Gly
- Ensembl rs2089497193
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.93
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available