E82D (p.Glu82Asp) variant of PAX6 (Paired box protein Pax-6)
E82D (p.Glu82Asp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
E82D (p.Glu82Asp) variant details
- p.Glu82Asp
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53793
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available