T20I (p.Thr20Ile) variant of NBN (Nibrin)
T20I (p.Thr20Ile) 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 0.31 / 1. The record also includes published literature and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs1563584711
- ClinGen CA371663612
- ClinVar RCV000685243
- Ensembl rs1563584711
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.19
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.32
- SIFT 0.11
- MutPred 0.54
- 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)