E68D (p.Glu68Asp) variant of CCND2 (G1/S-specific cyclin-D2)
E68D (p.Glu68Asp) in CCND2 (G1/S-specific cyclin-D2) is a missense 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.
E68D (p.Glu68Asp) variant details
- p.Glu68Asp
- gnomAD 12-4276013-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available