T388M (p.Thr388Met) variant of IDUA (Alpha-L-iduronidase)
T388M (p.Thr388Met) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T388M (p.Thr388Met) variant details
- p.Thr388Met
- rs794727896
- ClinGen CA355963455
- ClinVar RCV000674913
- ClinVar RCV001855616
- Conflicting interpretations
- not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.77
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the REMAINING population (allele frequency 0.00014)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)