Y625H (p.Tyr625His) variant of IDUA (Alpha-L-iduronidase)
Y625H (p.Tyr625His) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Y625H (p.Tyr625His) variant details
- p.Tyr625His
- rs1715312209
- ClinGen CA355965959
- ClinVar RCV001154844
- Ensembl rs1715312209
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.82
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)