A8V (p.Ala8Val) variant of NBN (Nibrin)
A8V (p.Ala8Val) 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; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs1060503459
- ClinGen CA16612557
- ClinVar RCV000457469
- ClinVar RCV001805079
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.24
- MetaLR 0.16
- MetaSVM -0.79
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.70
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Heredita)
- 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)