Y264C (p.Tyr264Cys) variant of IDS (Iduronate 2-sulfatase)
Y264C (p.Tyr264Cys) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar 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 and structural context.
Y264C (p.Tyr264Cys) variant details
- p.Tyr264Cys
- ExAC rs782340724
- gnomAD rs782340724
- Uncertain significance
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.92
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis, MPS-II)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available