E68A (p.Glu68Ala) variant of CCND2 (G1/S-specific cyclin-D2)
E68A (p.Glu68Ala) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E68A (p.Glu68Ala) variant details
- p.Glu68Ala
- gnomAD 12-4276012-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- CADD 31.00
- PolyPhen-2 0.59
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available