G879V (p.Gly879Val) variant of CDK12 (Cyclin-dependent kinase 12)
G879V (p.Gly879Val) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
G879V (p.Gly879Val) variant details
- p.Gly879Val
- rs1131692238
- ClinGen CA398838717
- cosmic curated COSV10471
- ClinVar RCV000491773
- Likely pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Lung adenocarcinoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)