R128P (p.Arg128Pro) variant of PAX6 (Paired box protein Pax-6)
R128P (p.Arg128Pro) 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 0.98 / 1. The record also includes published literature and structural context.
R128P (p.Arg128Pro) variant details
- p.Arg128Pro
- rs1592531953
- ClinGen CA379958366
- ClinVar RCV001972713
- Ensembl rs1592531953
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)