S260F (p.Ser260Phe) variant of IDUA (Alpha-L-iduronidase)
S260F (p.Ser260Phe) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S260F (p.Ser260Phe) variant details
- p.Ser260Phe
- TOPMed rs1715102531
- UniProt VAR 020981
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.83
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H/S)
- UniProt: Pathogenic (in MPS1H/S)
- Most common in the South Asian population (allele frequency 3.6e-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: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)