E45Q (p.Glu45Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
E45Q (p.Glu45Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- gnomAD 19-29812990-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.00
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available