P6L (p.Pro6Leu) variant of NBN (Nibrin)
P6L (p.Pro6Leu) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute lymphoid leukemia; 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.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs876658432
- ClinGen CA10578821
- ClinVar RCV000222282
- ClinVar RCV001233526
- Uncertain significance
- Acute lymphoid leukemia; Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.52
- MetaLR 0.18
- MetaSVM -0.71
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Acute lymphoid leukemia; Microcephaly, normal intelligence and i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)