G265D (p.Gly265Asp) variant of IDUA (Alpha-L-iduronidase)
G265D (p.Gly265Asp) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G265D (p.Gly265Asp) variant details
- p.Gly265Asp
- rs931510421
- ClinGen CA91168317
- ClinVar RCV002651788
- ClinVar RCV003134683
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.83
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Likely pathogenic (in MPS1H/S)
- UniProt: Likely pathogenic (in MPS1H/S)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)