Q59E (p.Gln59Glu) variant of NBN (Nibrin)
Q59E (p.Gln59Glu) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q59E (p.Gln59Glu) variant details
- p.Gln59Glu
- rs1554568427
- ClinGen CA371662639
- ClinVar RCV001911649
- ClinVar RCV002511110
- Uncertain significance
- not provided; Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.35
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.04
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Microcephaly, normal intelligence and immunodefici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)