A8G (p.Ala8Gly) variant of NBN (Nibrin)
A8G (p.Ala8Gly) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs1060503459
- ClinGen CA371664163
- ClinVar RCV001578686
- Ensembl rs1060503459
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.11
- AlphaMissense 0.24
- MetaLR 0.16
- MetaSVM -0.79
- CADD 18.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)