H30Q (p.His30Gln) variant of CDK4 (Cyclin-dependent kinase 4)
H30Q (p.His30Gln) in CDK4 (Cyclin-dependent kinase 4) 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 0.31 / 1. The record also includes published literature and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs2140388517
- ClinGen CA385548922
- ClinVar RCV004520401
- Ensembl rs2140388517
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.14
- MetaLR 0.08
- MetaSVM -0.98
- PolyPhen-2 0.01
- SIFT 0.21
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)