A111E (p.Ala111Glu) variant of AICDA (Q9GZX7)
A111E (p.Ala111Glu) 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 0.63 / 1. The record also includes population frequency data and structural context.
A111E (p.Ala111Glu) variant details
- p.Ala111Glu
- gnomAD rs1489687161
- Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.67
- MetaLR 0.42
- MetaSVM -0.24
- CADD 27.60
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available