N7K (p.Asn7Lys) variant of AICDA (Q9GZX7)
N7K (p.Asn7Lys) 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 0.12 / 1. The record also includes population frequency data and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- rs901889062
- ClinGen CA232301106
- cosmic curated COSV57566
- ClinVar RCV001372775
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -0.99
- CADD 2.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available