Q47H (p.Gln47His) variant of PAX6 (Paired box protein Pax-6)
Q47H (p.Gln47His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Irido-corneo-trabecular dysgenesis; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- rs2135147324
- ClinGen CA379959458
- ClinVar RCV002026301
- ClinVar RCV002471220
- Conflicting interpretations
- Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Conflicting classifications of pathogenicity (Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.14
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)