L57P (p.Leu57Pro) variant of NBN (Nibrin)
L57P (p.Leu57Pro) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs747920256
- ClinGen CA4803045
- ClinVar RCV000583436
- ClinVar RCV000636739
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- CADD 21.00
- PolyPhen-2 0.27
- SIFT 0.34
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)