R112C (p.Arg112Cys) variant of AICDA (Q9GZX7)
R112C (p.Arg112Cys) 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 0.71 / 1. The record also includes population frequency data and structural context.
R112C (p.Arg112Cys) variant details
- p.Arg112Cys
- rs1057520542
- ClinGen CA16606379
- cosmic curated COSV57565
- ClinVar RCV000432589
- Pathogenic
- not provided; Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- MetaLR 0.53
- MetaSVM 0.17
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyper-IgM syndrome type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available