G9V (p.Gly9Val) variant of NBN (Nibrin)
G9V (p.Gly9Val) 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 0.34 / 1. The record also includes published literature and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs1554569664
- ClinGen CA371664155
- ClinVar RCV000535302
- Ensembl rs1554569664
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- 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)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)