G27E (p.Gly27Glu) variant of NBN (Nibrin)
G27E (p.Gly27Glu) 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; Aplastic anemia; Microcephaly, normal intelligence and immunodefic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs755171159
- ClinGen CA371663426
- ClinVar RCV001039445
- ClinVar RCV003478669
- Uncertain significance
- not provided; Aplastic anemia; Microcephaly, normal intelligence and immunodefic
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.94
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Aplastic anemia; Microcephaly, normal intelligence)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)