L4M (p.Leu4Met) variant of NBN (Nibrin)
L4M (p.Leu4Met) 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 0.41 / 1. The record also includes published literature and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- rs1426394881
- ClinGen CA371664199
- ClinVar RCV003617330
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.36
- MetaLR 0.24
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.00
- 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)