E122* (p.Glu122Ter) variant of CCND3 (G1/S-specific cyclin-D3)
E122* (p.Glu122Ter) in CCND3 (G1/S-specific cyclin-D3) is a protein-truncating 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.
E122* (p.Glu122Ter) variant details
- p.Glu122Ter
- rs33966734
- gnomAD 6-41936060-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available