G68D (p.Gly68Asp) variant of CEBPE (Q15744)
G68D (p.Gly68Asp) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- 1000Genomes rs201670447
- ExAC rs201670447
- gnomAD rs201670447
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.07
- CADD 15.70
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available