V65E (p.Val65Glu) variant of NBN (Nibrin)
V65E (p.Val65Glu) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aplastic anemia; Microcephaly, normal intelligence and immunodeficiency; Heredit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
V65E (p.Val65Glu) variant details
- p.Val65Glu
- rs1563581457
- ClinGen CA371662597
- ClinVar RCV000700707
- ClinVar RCV002422565
- Uncertain significance
- Aplastic anemia; Microcephaly, normal intelligence and immunodeficiency; Heredit
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.13
- MetaLR 0.43
- MetaSVM -0.55
- PolyPhen-2 0.82
- SIFT 0.01
- MutPred 0.68
- ClinVar: Uncertain significance (Aplastic anemia; Microcephaly, normal intelligence and immunodef)
- 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)