I42S (p.Ile42Ser) variant of PAX6 (Paired box protein Pax-6)
I42S (p.Ile42Ser) 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 experimental measurements, published literature, and structural context.
I42S (p.Ile42Ser) variant details
- p.Ile42Ser
- rs1592562910
- ClinGen CA379959489
- ClinVar RCV000984370
- Ensembl rs1592562910
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.96
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.889
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)