G27A (p.Gly27Ala) variant of NBN (Nibrin)
G27A (p.Gly27Ala) 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 0.98 / 1. The record also includes published literature and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs755171159
- ClinGen CA371663425
- ClinVar RCV003618612
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- 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)