A59C (p.Ala59Cys) variant of CEBPE (Q15744)
A59C (p.Ala59Cys) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A59C (p.Ala59Cys) variant details
- p.Ala59Cys
- gnomAD 14-23118917-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available