G30D (p.Gly30Asp) variant of CHEK2 (O96017)
G30D (p.Gly30Asp) 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 0.60 / 1. The record also includes published literature and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs112032663
- ClinGen CA322998843
- ClinVar RCV001018620
- Ensembl rs112032663
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.10
- MetaLR 0.80
- MetaSVM 0.11
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.19
- 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)