W80R (p.Trp80Arg) variant of AICDA (Q9GZX7)
W80R (p.Trp80Arg) 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 published literature and structural context.
W80R (p.Trp80Arg) variant details
- p.Trp80Arg
- rs104894320
- ClinGen CA117271
- ClinVar RCV000005431
- UniProt VAR 013775
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Structural context available
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)
- Cited in: Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to… (PMID 14962793)