Y16S (p.Tyr16Ser) variant of NBN (Nibrin)
Y16S (p.Tyr16Ser) 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 0.29 / 1. The record also includes published literature and structural context.
Y16S (p.Tyr16Ser) variant details
- p.Tyr16Ser
- rs864622726
- ClinGen CA348276
- ClinVar RCV000204001
- Ensembl rs864622726
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.04
- SIFT 0.18
- MutPred 0.55
- 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)