C87R (p.Cys87Arg) variant of AICDA (Q9GZX7)
C87R (p.Cys87Arg) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C87R (p.Cys87Arg) variant details
- p.Cys87Arg
- rs762590894
- ClinGen CA6434462
- ClinVar RCV000755797
- ClinVar RCV001043961
- Pathogenic
- not provided; Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to… (PMID 14962793)
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)