Y17C (p.Tyr17Cys) variant of CDK4 (Cyclin-dependent kinase 4)
Y17C (p.Tyr17Cys) 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; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y17C (p.Tyr17Cys) variant details
- p.Tyr17Cys
- rs781527596
- ClinGen CA6657889
- ClinVar RCV001972060
- ClinVar RCV005535162
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)