H45D (p.His45Asp) variant of NBN (Nibrin)
H45D (p.His45Asp) 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; not provided; Microcephaly, normal inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H45D (p.His45Asp) variant details
- p.His45Asp
- rs773865323
- ClinGen CA371663033
- ClinVar RCV000527832
- ClinVar RCV000777185
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)