R383C (p.Arg383Cys) variant of IDUA (Alpha-L-iduronidase)
R383C (p.Arg383Cys) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R383C (p.Arg383Cys) variant details
- p.Arg383Cys
- rs751396984
- ClinGen CA355963424
- ClinVar RCV003131245
- ClinVar RCV003778710
- Conflicting interpretations
- not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.81
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic (in MPS1S)
- UniProt: Likely pathogenic (in MPS1S)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)