S16* (p.Ser16Ter) variant of IDUA (Alpha-L-iduronidase)
S16* (p.Ser16Ter) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S16* (p.Ser16Ter) variant details
- p.Ser16Ter
- rs567921262
- ClinGen CA91144668
- ClinVar RCV001945815
- 1000Genomes rs567921262
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)