K30* (p.Lys30Ter) variant of CCNE1 (G1/S-specific cyclin-E1)
K30* (p.Lys30Ter) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K30* (p.Lys30Ter) variant details
- p.Lys30Ter
- gnomAD 19-29812753-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 52.00
- Population evidence available
- Structural context available
- Literature evidence available