p.Ser16 Ala19del variant of IDUA (Alpha-L-iduronidase)
p.Ser16 Ala19del in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser16 Ala19del variant details
- rs398123260
- gnomAD 4-987118-GCGCTCCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)