T364A (p.Thr364Ala) variant of IDUA (Alpha-L-iduronidase)
T364A (p.Thr364Ala) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T364A (p.Thr364Ala) variant details
- p.Thr364Ala
- rs1216054018
- ClinGen CA355963313
- ClinVar RCV002039017
- Ensembl rs1216054018
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.88
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)