A8P (p.Ala8Pro) variant of NBN (Nibrin)
A8P (p.Ala8Pro) 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 0.32 / 1. The record also includes published literature and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- rs2129938188
- ClinGen CA371664167
- ClinVar RCV003508147
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.91
- SIFT 0.15
- MutPred 0.58
- 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)