I102N (p.Ile102Asn) variant of PAX6 (Paired box protein Pax-6)
I102N (p.Ile102Asn) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
I102N (p.Ile102Asn) variant details
- p.Ile102Asn
- rs1565238322
- ClinGen CA379958545
- ClinVar RCV000754778
- Ensembl rs1565238322
- Pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)