G54R (p.Gly54Arg) variant of AICDA (Q9GZX7)
G54R (p.Gly54Arg) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyper-IgM syndrome type 2. The record also includes structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs1565509771
- ClinGen CA383819524
- ClinVar RCV000695875
- ClinVar RCV001091143
- Uncertain significance
- not provided; Hyper-IgM syndrome type 2
- Missense
- ClinVar: Uncertain significance (not provided; Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available