T3A (p.Thr3Ala) variant of CDK4 (Cyclin-dependent kinase 4)
T3A (p.Thr3Ala) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs2140388808
- ClinGen CA385549355
- ClinVar RCV004520398
- Ensembl rs2140388808
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.19
- ClinVar: Likely benign (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)