R40K (p.Arg40Lys) variant of PAX5 (Paired box protein Pax-5)
R40K (p.Arg40Lys) 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.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- Ensembl rs999324823
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance