I66N (p.Ile66Asn) variant of PAX6 (Paired box protein Pax-6)
I66N (p.Ile66Asn) 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 Developmental cataract. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
I66N (p.Ile66Asn) variant details
- p.Ile66Asn
- rs864309686
- ClinGen CA278818
- ClinVar RCV000203333
- Ensembl rs864309686
- Likely pathogenic
- Developmental cataract
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Developmental cataract)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available