G27V (p.Gly27Val) variant of NBN (Nibrin)
G27V (p.Gly27Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- rs755171159
- ClinGen CA4803058
- ClinVar RCV000228051
- ClinVar RCV000568019
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.94
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)