G194R (p.Gly194Arg) variant of PAX6 (Paired box protein Pax-6)
G194R (p.Gly194Arg) 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; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G194R (p.Gly194Arg) variant details
- p.Gly194Arg
- rs374396492
- ClinGen CA5933838
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV99570
- Pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.81
- MetaLR 0.76
- MetaSVM 0.57
- PolyPhen-2 0.63
- SIFT 0.02
- EVE 0.16
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)