E62V (p.Glu62Val) variant of NBN (Nibrin)
E62V (p.Glu62Val) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
E62V (p.Glu62Val) variant details
- p.Glu62Val
- rs1812067152
- ClinGen CA371662613
- ClinVar RCV001911600
- ClinVar RCV002407030
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.55
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- 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)