E2K (p.Glu2Lys) variant of CCND1 (G1/S-specific cyclin-D1)
E2K (p.Glu2Lys) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- 1000Genomes rs572037183
- ExAC rs572037183
- TOPMed rs572037183
- gnomAD rs572037183
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.11
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available