E18Q (p.Glu18Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
E18Q (p.Glu18Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- gnomAD 19-29812717-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.04
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available