T34I (p.Thr34Ile) variant of IDS (Iduronate 2-sulfatase)
T34I (p.Thr34Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs1156672457
- ClinGen CA414528121
- ClinVar RCV002464930
- TOPMed rs1156672457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.34
- CADD 21.20
- PolyPhen-2 0.11
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available