D38Y (p.Asp38Tyr) variant of NBN (Nibrin)
D38Y (p.Asp38Tyr) 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; Acute lymphoid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- rs876659565
- ClinGen CA371663183
- ClinVar RCV002579210
- ClinVar RCV005045301
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.68
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Acute ly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)