E18K (p.Glu18Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
E18K (p.Glu18Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV52904
- TOPMed rs1305959499
- gnomAD rs1305959499
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.03
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available