R25C (p.Arg25Cys) variant of AICDA (Q9GZX7)
R25C (p.Arg25Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs1404944797
- ClinGen CA384038220
- ClinVar RCV003506282
- UniProt VAR 014091
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.51
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.09
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance (in dbSNP:rs1404944797)
- UniProt: Uncertain significance (in dbSNP:rs1404944797)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the… (PMID 11544457)