H56Y (p.His56Tyr) variant of AICDA (Q9GZX7)
H56Y (p.His56Tyr) in AICDA (Q9GZX7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HIGM2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- UniProt VAR 077565
- Uncertain significance
- in HIGM2
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance (in HIGM2)
- UniProt: Uncertain significance (in HIGM2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to… (PMID 14962793)
- Cited in: Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on… (PMID 27716525)