C31F (p.Cys31Phe) variant of NBN (Nibrin)
C31F (p.Cys31Phe) 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 0.35 / 1. The record also includes published literature and structural context.
C31F (p.Cys31Phe) variant details
- p.Cys31Phe
- rs1377520302
- ClinGen CA371663330
- ClinVar RCV003617310
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.32
- MetaLR 0.16
- MetaSVM -0.88
- PolyPhen-2 0.89
- SIFT 0.04
- MutPred 0.90
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)