K3N (p.Lys3Asn) variant of NBN (Nibrin)
K3N (p.Lys3Asn) 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 0.36 / 1. The record also includes published literature and structural context.
K3N (p.Lys3Asn) variant details
- p.Lys3Asn
- rs1586116169
- ClinGen CA371664203
- ClinVar RCV002297662
- Ensembl rs1586116169
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.61
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.48
- 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)