R24W (p.Arg24Trp) variant of AICDA (Q9GZX7)
R24W (p.Arg24Trp) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs104894324
- ClinGen CA117266
- cosmic curated COSV57564
- ClinVar RCV000005429
- Pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.87
- MetaLR 0.58
- MetaSVM 0.39
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)