G208D (p.Gly208Asp) variant of IDUA (Alpha-L-iduronidase)
G208D (p.Gly208Asp) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
G208D (p.Gly208Asp) variant details
- p.Gly208Asp
- rs1430681871
- ClinGen CA355961948
- cosmic curated COSV56102
- ClinVar RCV000670254
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (PMID 12559846)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)