G197S (p.Gly197Ser) variant of IDUA (Alpha-L-iduronidase)
G197S (p.Gly197Ser) 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.
G197S (p.Gly197Ser) variant details
- p.Gly197Ser
- rs2153021926
- ClinGen CA355961839
- ClinVar RCV002052114
- ClinVar RCV004801138
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)