R125S (p.Arg125Ser) variant of PAX6 (Paired box protein Pax-6)
R125S (p.Arg125Ser) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 published literature and structural context.
R125S (p.Arg125Ser) variant details
- p.Arg125Ser
- rs1231578758
- ClinGen CA379958382
- ClinVar RCV001346651
- TOPMed rs1231578758
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance (in FVH1)
- UniProt: Uncertain significance (in FVH1)
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)