P15L (p.Pro15Leu) variant of NBN (Nibrin)
P15L (p.Pro15Leu) 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; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs1586112154
- ClinGen CA371663709
- ClinVar RCV001022588
- ClinVar RCV003507350
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.20
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.64
- SIFT 0.09
- MutPred 0.56
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Heredita)
- 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)