E7D (p.Glu7Asp) variant of CCNE1 (G1/S-specific cyclin-E1)
E7D (p.Glu7Asp) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- gnomAD 19-29812576-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available