A50V (p.Ala50Val) variant of NBN (Nibrin)
A50V (p.Ala50Val) 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 0.35 / 1. The record also includes published literature and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs1554569035
- ClinGen CA371662979
- ClinVar RCV000636752
- ClinVar RCV001011910
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.59
- 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)