Q39K (p.Gln39Lys) variant of NBN (Nibrin)
Q39K (p.Gln39Lys) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q39K (p.Gln39Lys) variant details
- p.Gln39Lys
- rs377730553
- ClinGen CA181281098
- ClinVar RCV000636775
- ClinVar RCV001010019
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Aplastic anemia; Microc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-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)