G9D (p.Gly9Asp) variant of NBN (Nibrin)
G9D (p.Gly9Asp) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency; not provided; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- rs1554569664
- ClinGen CA371664158
- ClinVar RCV003869323
- ClinVar RCV004787071
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; not provided; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.16
- MetaLR 0.11
- MetaSVM -0.94
- PolyPhen-2 0.80
- SIFT 0.06
- MutPred 0.44
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)