T100P (p.Thr100Pro) variant of IDS (Iduronate 2-sulfatase)
T100P (p.Thr100Pro) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T100P (p.Thr100Pro) variant details
- p.Thr100Pro
- ExAC rs782118903
- gnomAD rs782118903
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.92
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00016)
- Structural context available