R128H (p.Arg128His) variant of PAX6 (Paired box protein Pax-6)
R128H (p.Arg128His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
R128H (p.Arg128His) variant details
- p.Arg128His
- rs1592531953
- ClinGen CA379958367
- ClinVar RCV000984411
- Ensembl rs1592531953
- Likely pathogenic
- Aniridia 1
- 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: Likely pathogenic (Aniridia 1)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Population evidence available
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)