G14D (p.Gly14Asp) variant of CHEK2 (O96017)
G14D (p.Gly14Asp) 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 0.48 / 1. The record also includes published literature and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs1601854035
- ClinGen CA411091928
- ClinVar RCV001022038
- Ensembl rs1601854035
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.30
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.13
- 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)