E7K (p.Glu7Lys) variant of CDK4 (Cyclin-dependent kinase 4)
E7K (p.Glu7Lys) 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; Melanoma, cutaneous malignant, suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs1000052939
- ClinGen CA237844611
- ClinVar RCV000533639
- ClinVar RCV000709235
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.36
- CADD 31.00
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma, cutaneous mal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)