D67E (p.Asp67Glu) variant of AICDA (Q9GZX7)
D67E (p.Asp67Glu) 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.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- rs2540251824
- ClinGen CA383819360
- ClinVar RCV003057290
- 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