Y225C (p.Tyr225Cys) variant of IDS (Iduronate 2-sulfatase)
Y225C (p.Tyr225Cys) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y225C (p.Tyr225Cys) variant details
- p.Tyr225Cys
- rs2520862723
- ClinGen CA414522205
- ClinVar RCV003087881
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.92
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)