L66W (p.Leu66Trp) variant of NBN (Nibrin)
L66W (p.Leu66Trp) 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 0.74 / 1. The record also includes published literature and structural context.
L66W (p.Leu66Trp) variant details
- p.Leu66Trp
- rs1812065476
- ClinGen CA371662590
- ClinVar RCV001047145
- Ensembl rs1812065476
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.95
- MetaLR 0.69
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- 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)