S40L (p.Ser40Leu) variant of NBN (Nibrin)
S40L (p.Ser40Leu) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs587781530
- ClinGen CA164600
- ClinVar RCV000129524
- ClinVar RCV000232275
- Uncertain significance
- Acute lymphoid leukemia; Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.88
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Acute lymphoid leukemia; Microcephaly, normal intelligence and i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)