R128C (p.Arg128Cys) variant of PAX6 (Paired box protein Pax-6)
R128C (p.Arg128Cys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Irido-corneo-trabecular dysgenesis; Aniridia 1; Foveal hypoplasia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R128C (p.Arg128Cys) variant details
- p.Arg128Cys
- rs121907918
- ClinGen CA116221
- cosmic curated COSV10459
- ClinVar RCV000003635
- Pathogenic/Likely pathogenic
- Irido-corneo-trabecular dysgenesis; Aniridia 1; Foveal hypoplasia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.17
- PolyPhen-2 0.12
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Irido-corneo-trabecular dysgenesis; Aniridia 1; Foveal hypoplasi)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- Cited in: PAX6 missense mutation in isolated foveal hypoplasia. (PMID 8640214)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)