F15L (p.Phe15Leu) variant of AICDA (Q9GZX7)
F15L (p.Phe15Leu) 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, published literature, and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- rs2136433362
- ClinGen CA384038374
- ClinVar RCV001992299
- UniProt VAR 077563
- Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.71
- MetaLR 0.49
- MetaSVM -0.01
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. (PMID 23803409)
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)