E62D (p.Glu62Asp) variant of NBN (Nibrin)
E62D (p.Glu62Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- rs1586109110
- ClinGen CA371662612
- ClinVar RCV000821079
- Ensembl rs1586109110
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.11
- MetaLR 0.11
- MetaSVM -1.06
- PolyPhen-2 1.00
- SIFT 0.11
- MutPred 0.54
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)