G7R (p.Gly7Arg) variant of IDS (Iduronate 2-sulfatase)
G7R (p.Gly7Arg) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- TOPMed rs1052659546
- gnomAD rs1052659546
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.39
- CADD 13.60
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available