P6Q (p.Pro6Gln) variant of IDUA (Alpha-L-iduronidase)
P6Q (p.Pro6Gln) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- rs11248061
- gnomAD 4-987108-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.72
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.83)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)