Q34K (p.Gln34Lys) variant of CHEK2 (O96017)
Q34K (p.Gln34Lys) 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 0.49 / 1. The record also includes published literature and structural context.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- rs1231012263
- ClinGen CA411091504
- ClinVar RCV001189255
- gnomAD rs1231012263
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM 0.14
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)