G54S (p.Gly54Ser) variant of AICDA (Q9GZX7)
G54S (p.Gly54Ser) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 2. The record also includes structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57563
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- UniProt: Uncertain significance
- Structural context available