V47L (p.Val47Leu) variant of NBN (Nibrin)
V47L (p.Val47Leu) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- rs876658446
- ClinGen CA10578811
- ClinVar RCV000213612
- ClinVar RCV005090078
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.15
- MetaLR 0.43
- MetaSVM -0.56
- PolyPhen-2 0.07
- SIFT 0.08
- MutPred 0.62
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)