I35F (p.Ile35Phe) variant of NBN (Nibrin)
I35F (p.Ile35Phe) 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 0.65 / 1. The record also includes published literature and structural context.
I35F (p.Ile35Phe) variant details
- p.Ile35Phe
- rs2129925202
- ClinGen CA371663262
- ClinVar RCV001902915
- ClinVar RCV005684798
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.44
- MetaLR 0.70
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- 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)