A75T (p.Ala75Thr) variant of IDUA (Alpha-L-iduronidase)
A75T (p.Ala75Thr) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- rs758452450
- ClinGen CA356994
- ClinVar RCV000208613
- ClinVar RCV000670756
- Pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common… (PMID 7951228)
- Cited in: Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent… (PMID 8019563)