S43L (p.Ser43Leu) variant of AICDA (Q9GZX7)
S43L (p.Ser43Leu) 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.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- rs2540253190
- ClinGen CA384038009
- ClinVar RCV002943081
- 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