T19A (p.Thr19Ala) variant of CDK4 (Cyclin-dependent kinase 4)
T19A (p.Thr19Ala) 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 Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- rs1595111197
- ClinGen CA385549087
- ClinVar RCV001223303
- ClinVar RCV002348747
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.27
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.08
- SIFT 0.04
- MutPred 0.56
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)