V22F (p.Val22Phe) variant of NBN (Nibrin)
V22F (p.Val22Phe) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.25 / 1. The record also includes published literature and structural context.
V22F (p.Val22Phe) variant details
- p.Val22Phe
- rs369910645
- ClinGen CA371663582
- ClinVar RCV000540870
- ClinVar RCV004943965
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- 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)