H45Q (p.His45Gln) variant of NBN (Nibrin)
H45Q (p.His45Gln) 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; Microcephaly, normal intelligence and immunodeficiency; Acute l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H45Q (p.His45Gln) variant details
- p.His45Gln
- rs770618624
- ClinGen CA371663023
- ClinVar RCV001901292
- ClinVar RCV002482751
- Uncertain significance
- Aplastic anemia; Microcephaly, normal intelligence and immunodeficiency; Acute l
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.91
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aplastic anemia; Microcephaly, normal intelligence and immunodef)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)