L60F (p.Leu60Phe) variant of AICDA (Q9GZX7)
L60F (p.Leu60Phe) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 2. The record also includes structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- rs1941271183
- ClinGen CA383819456
- ClinVar RCV002944311
- TOPMed rs1941271183
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available