G12A (p.Gly12Ala) variant of NBN (Nibrin)
G12A (p.Gly12Ala) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs730881860
- ClinGen CA299645
- ClinVar RCV000160799
- ClinVar RCV001208076
- Uncertain significance
- not provided; Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.10
- PolyPhen-2 0.39
- SIFT 0.08
- MutPred 0.30
- ClinVar: Uncertain significance (not provided; Microcephaly, normal intelligence and immunodefici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)