E44D (p.Glu44Asp) variant of CCNE1 (G1/S-specific cyclin-E1)
E44D (p.Glu44Asp) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD rs1490679833
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available