E12K (p.Glu12Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
E12K (p.Glu12Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD rs1357182033
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available