E97D (p.Glu97Asp) variant of PAX5 (Paired box protein Pax-5)
E97D (p.Glu97Asp) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
E97D (p.Glu97Asp) variant details
- p.Glu97Asp
- NCI-TCGA Cosmic COSV6391
- cosmic curated COSV63912
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance