R505G (p.Arg505Gly) variant of IDUA (Alpha-L-iduronidase)
R505G (p.Arg505Gly) 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.
R505G (p.Arg505Gly) variant details
- p.Arg505Gly
- rs1715218377
- ClinGen CA355964784
- ClinVar RCV001995767
- TOPMed rs1715218377
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- CADD 26.90
- 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 5e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)