T55S (p.Thr55Ser) variant of NBN (Nibrin)
T55S (p.Thr55Ser) 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.
T55S (p.Thr55Ser) variant details
- p.Thr55Ser
- rs1812127566
- ClinGen CA371662901
- ClinVar RCV001036960
- Ensembl rs1812127566
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.82
- PolyPhen-2 0.02
- SIFT 0.07
- MutPred 0.56
- 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)