I87R (p.Ile87Arg) variant of PAX6 (Paired box protein Pax-6)
I87R (p.Ile87Arg) 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 not provided. The record also includes published literature and structural context.
I87R (p.Ile87Arg) variant details
- p.Ile87Arg
- rs2496136805
- ClinGen CA379958655
- ClinVar RCV003224010
- UniProt VAR 003813
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- Cited in: Functional analysis of paired box missense mutations in the PAX6 gene. (PMID 9147640)
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)