V65L (p.Val65Leu) variant of NBN (Nibrin)
V65L (p.Val65Leu) 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.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs778998026
- ClinGen CA371662598
- ClinVar RCV001322027
- ExAC rs778998026
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.09
- MetaLR 0.48
- MetaSVM -0.78
- PolyPhen-2 0.09
- SIFT 0.03
- MutPred 0.66
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- 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)