D45N (p.Asp45Asn) variant of AICDA (Q9GZX7)
D45N (p.Asp45Asn) 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.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs2540253177
- ClinGen CA384038003
- ClinVar RCV002943076
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- MetaLR 0.38
- MetaSVM -0.36
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.10
- 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 9e-07)
- Structural context available