P26H (p.Pro26His) variant of CDK4 (Cyclin-dependent kinase 4)
P26H (p.Pro26His) 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 0.33 / 1. The record also includes published literature and structural context.
P26H (p.Pro26His) variant details
- p.Pro26His
- rs199609381
- ClinGen CA237844587
- ClinVar RCV004520396
- Ensembl rs199609381
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.23
- MetaLR 0.11
- MetaSVM -0.97
- PolyPhen-2 0.01
- SIFT 0.06
- MutPred 0.29
- 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)