D61H (p.Asp61His) variant of NBN (Nibrin)
D61H (p.Asp61His) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
D61H (p.Asp61His) variant details
- p.Asp61His
- rs1812067648
- ClinGen CA371662625
- ClinVar RCV002735152
- ClinVar RCV004067701
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.03
- SIFT 0.45
- MutPred 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)