A7P (p.Ala7Pro) variant of NBN (Nibrin)
A7P (p.Ala7Pro) 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 0.33 / 1. The record also includes published literature and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- rs587780779
- ClinGen CA371664176
- ClinVar RCV001875577
- gnomAD rs587780779
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.17
- MetaLR 0.08
- MetaSVM -1.11
- PolyPhen-2 0.99
- SIFT 0.14
- MutPred 0.43
- 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)