E2Q (p.Glu2Gln) variant of CCND1 (G1/S-specific cyclin-D1)
E2Q (p.Glu2Gln) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- 1000Genomes rs572037183
- ExAC rs572037183
- TOPMed rs572037183
- gnomAD rs572037183
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.17
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available