I64T (p.Ile64Thr) variant of IDS (Iduronate 2-sulfatase)
I64T (p.Ile64Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I64T (p.Ile64Thr) variant details
- p.Ile64Thr
- ExAC rs781997631
- gnomAD rs781997631
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available