R214G (p.Arg214Gly) variant of PAX6 (Paired box protein Pax-6)
R214G (p.Arg214Gly) 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 0.95 / 1. The record also includes published literature and structural context.
R214G (p.Arg214Gly) variant details
- p.Arg214Gly
- rs1592433545
- ClinGen CA379956899
- ClinVar RCV000984426
- Ensembl rs1592433545
- Pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)