D6Y (p.Asp6Tyr) variant of CHEK2 (O96017)
D6Y (p.Asp6Tyr) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- rs1555932944
- ClinGen CA411092094
- ClinVar RCV001012797
- TOPMed rs1555932944
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.13
- MetaLR 0.73
- MetaSVM 0.03
- PolyPhen-2 0.68
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)