V47M (p.Val47Met) variant of NBN (Nibrin)
V47M (p.Val47Met) 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; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- rs876658446
- ClinGen CA371663010
- ClinVar RCV000564780
- ClinVar RCV001354454
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.34
- AlphaMissense 0.15
- MetaLR 0.43
- MetaSVM -0.56
- CADD 23.00
- PolyPhen-2 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)