T100I (p.Thr100Ile) variant of IDS (Iduronate 2-sulfatase)
T100I (p.Thr100Ile) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T100I (p.Thr100Ile) variant details
- p.Thr100Ile
- TOPMed rs2089496924
- gnomAD rs2089496924
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.87
- CADD 24.00
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available