E12D (p.Glu12Asp) variant of CCNE1 (G1/S-specific cyclin-E1)
E12D (p.Glu12Asp) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 19-29812701-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0606
- REVEL 0.06
- CADD 1.85
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available