D570V (p.Asp570Val) variant of IDUA (Alpha-L-iduronidase)
D570V (p.Asp570Val) 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.
D570V (p.Asp570Val) variant details
- p.Asp570Val
- rs753905054
- ClinGen CA355965255
- ClinVar RCV002761384
- ExAC rs753905054
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.79
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)