Y625S (p.Tyr625Ser) variant of IDUA (Alpha-L-iduronidase)
Y625S (p.Tyr625Ser) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y625S (p.Tyr625Ser) variant details
- p.Tyr625Ser
- rs587779401
- ClinGen CA355965961
- ClinVar RCV003756469
- Ensembl rs587779401
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.83
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)