R69S (p.Arg69Ser) variant of PAX6 (Paired box protein Pax-6)
R69S (p.Arg69Ser) 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 0.93 / 1. The record also includes published literature and structural context.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- rs2135097990
- ClinGen CA379958897
- ClinVar RCV001903869
- Ensembl rs2135097990
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.92
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)