R208Q (p.Arg208Gln) variant of PAX6 (Paired box protein Pax-6)
R208Q (p.Arg208Gln) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R208Q (p.Arg208Gln) variant details
- p.Arg208Gln
- rs749244084
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53793
- UniProt VAR 008706
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Population evidence available
- Structural context available
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)
- Cited in: Mutation in the PAX6 gene in twenty patients with aniridia. (PMID 10737978)