S43T (p.Ser43Thr) variant of AICDA (Q9GZX7)
S43T (p.Ser43Thr) 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.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- rs1941294885
- ClinGen CA384038014
- ClinVar RCV001294356
- Ensembl rs1941294885
- 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