G68C (p.Gly68Cys) variant of CEBPE (Q15744)
G68C (p.Gly68Cys) 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, published literature, and structural context.
G68C (p.Gly68Cys) variant details
- p.Gly68Cys
- gnomAD 14-23118890-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.04
- CADD 17.70
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available