T388R (p.Thr388Arg) variant of IDUA (Alpha-L-iduronidase)
T388R (p.Thr388Arg) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T388R (p.Thr388Arg) variant details
- p.Thr388Arg
- rs794727896
- ClinGen CA91169370
- ClinVar RCV000592196
- ClinVar RCV000723433
- Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.82
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)
- Cited in: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PMID 10466419)