L3V (p.Leu3Val) variant of PAX5 (Paired box protein Pax-5)
L3V (p.Leu3Val) 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.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- 1000Genomes rs1841279599
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance