E7K (p.Glu7Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
E7K (p.Glu7Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- TOPMed rs1392000524
- gnomAD rs1392000524
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available