R262S (p.Arg262Ser) variant of PAX6 (Paired box protein Pax-6)
R262S (p.Arg262Ser) 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 Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
R262S (p.Arg262Ser) variant details
- p.Arg262Ser
- rs1950628459
- ClinGen CA379956543
- ClinVar RCV001269465
- Ensembl rs1950628459
- Pathogenic
- Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available