R74C (p.Arg74Cys) variant of AICDA (Q9GZX7)
R74C (p.Arg74Cys) 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 0.49 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- rs1462302054
- ClinGen CA383819270
- ClinVar RCV003614493
- gnomAD rs1462302054
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.46
- MetaLR 0.34
- MetaSVM -0.38
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.17
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available