T34K (p.Thr34Lys) variant of IDS (Iduronate 2-sulfatase)
T34K (p.Thr34Lys) 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 Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T34K (p.Thr34Lys) variant details
- p.Thr34Lys
- rs1156672457
- ClinGen CA414528125
- ClinVar RCV003822459
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.43
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)