I41T (p.Ile41Thr) variant of NBN (Nibrin)
I41T (p.Ile41Thr) 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 0.49 / 1. The record also includes published literature and structural context.
I41T (p.Ile41Thr) variant details
- p.Ile41Thr
- rs1554569074
- ClinGen CA371663101
- ClinVar RCV001231264
- Ensembl rs1554569074
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.99
- MetaLR 0.35
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- 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)