A45V (p.Ala45Val) variant of PAX5 (Paired box protein Pax-5)
A45V (p.Ala45Val) 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.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- Ensembl rs2132503342
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance