S28C (p.Ser28Cys) variant of CCNE1 (G1/S-specific cyclin-E1)
S28C (p.Ser28Cys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- gnomAD 19-29812748-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.10
- CADD 28.20
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available