R261Q (p.Arg261Gln) variant of PAX6 (Paired box protein Pax-6)
R261Q (p.Arg261Gln) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
R261Q (p.Arg261Gln) variant details
- p.Arg261Gln
- rs1950629763
- ClinGen CA379956551
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53794
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.96
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)