R60M (p.Arg60Met) variant of IDS (Iduronate 2-sulfatase)
R60M (p.Arg60Met) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R60M (p.Arg60Met) variant details
- p.Arg60Met
- TOPMed rs2089504337
- gnomAD rs2089504337
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.59
- CADD 19.10
- PolyPhen-2 0.56
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available