L4P (p.Leu4Pro) variant of NBN (Nibrin)
L4P (p.Leu4Pro) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aplastic anemia; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs748090667
- ClinGen CA16612508
- ClinVar RCV000463112
- ClinVar RCV000569693
- Uncertain significance
- Aplastic anemia; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.98
- MetaLR 0.28
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Aplastic anemia; not provided; Hereditary cancer-predisposing sy)
- 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)