E7D (p.Glu7Asp) variant of CCND2 (G1/S-specific cyclin-D2)
E7D (p.Glu7Asp) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- gnomAD 12-4274061-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- MetaLR 0.13
- MetaSVM -0.77
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available