L4V (p.Leu4Val) variant of NBN (Nibrin)
L4V (p.Leu4Val) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs1426394881
- ClinGen CA371664198
- ClinVar RCV001214168
- ClinVar RCV003163634
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.31
- AlphaMissense 0.36
- MetaLR 0.24
- MetaSVM -0.73
- CADD 23.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Likely benign
- UniProt: Likely benign
- 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)