C205Y (p.Cys205Tyr) variant of IDUA (Alpha-L-iduronidase)
C205Y (p.Cys205Tyr) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C205Y (p.Cys205Tyr) variant details
- p.Cys205Tyr
- rs1715086540
- ClinGen CA355961928
- ClinVar RCV001961290
- Ensembl rs1715086540
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)