E28E (p.Glu28Glu) variant of CDK2 (Cyclin-dependent kinase 2)
E28E (p.Glu28Glu) in CDK2 (Cyclin-dependent kinase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs2069398
- gnomAD 12-55967092-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 17.70
- Population evidence available
- Structural context available
- Cited in: Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of… (PMID 26998216)
- Cited in: A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. (PMID 21559390)