R60K (p.Arg60Lys) variant of IDS (Iduronate 2-sulfatase)
R60K (p.Arg60Lys) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R60K (p.Arg60Lys) variant details
- p.Arg60Lys
- TOPMed rs2089504337
- gnomAD rs2089504337
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.42
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available