I33L (p.Ile33Leu) variant of NBN (Nibrin)
I33L (p.Ile33Leu) 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 0.61 / 1. The record also includes published literature and structural context.
I33L (p.Ile33Leu) variant details
- p.Ile33Leu
- rs1563584435
- ClinGen CA371663302
- ClinVar RCV003040624
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.12
- MetaLR 0.72
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.66
- 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)