D43G (p.Asp43Gly) variant of CCNE1 (G1/S-specific cyclin-E1)
D43G (p.Asp43Gly) in CCNE1 (G1/S-specific cyclin-E1) 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 and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- ExAC rs765951124
- gnomAD rs765951124
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available