Q255H (p.Gln255His) variant of PAX6 (Paired box protein Pax-6)
Q255H (p.Gln255His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Q255H (p.Gln255His) variant details
- p.Gln255His
- rs1592420967
- ClinGen CA379956600
- ClinVar RCV000984431
- ClinVar RCV005241414
- Pathogenic
- not provided; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (not provided; Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)