Q47R (p.Gln47Arg) variant of PAX6 (Paired box protein Pax-6)
Q47R (p.Gln47Arg) 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 Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs1131692289
- ClinGen CA379959461
- ClinVar RCV000495996
- Ensembl rs1131692289
- Pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.67
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.47
- EVE 0.28
- ClinVar: Pathogenic (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)