G23D (p.Gly23Asp) variant of CEBPE (Q15744)
G23D (p.Gly23Asp) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- TOPMed rs1018705316
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.05
- MetaSVM -1.01
- CADD 11.50
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available