Q66R (p.Gln66Arg) variant of IDS (Iduronate 2-sulfatase)
Q66R (p.Gln66Arg) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- ExAC rs782375828
- TOPMed rs782375828
- gnomAD rs782375828
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.63
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available