Y24C (p.Tyr24Cys) variant of NBN (Nibrin)
Y24C (p.Tyr24Cys) 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 0.88 / 1. The record also includes published literature and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- rs1812137176
- ClinGen CA371663508
- ClinVar RCV003020673
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.87
- MetaLR 0.85
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- 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)