E12* (p.Glu12Ter) variant of CCNE1 (G1/S-specific cyclin-E1)
E12* (p.Glu12Ter) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- gnomAD 19-29812699-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available