R24Q (p.Arg24Gln) variant of AICDA (Q9GZX7)
R24Q (p.Arg24Gln) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs886923939
- ClinGen CA232301103
- ClinVar RCV001070577
- TOPMed rs886923939
- Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.63
- MetaLR 0.54
- MetaSVM -0.05
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.16
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Likely pathogenic (in HIGM2)
- UniProt: Likely pathogenic (in HIGM2)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available