G71A (p.Gly71Ala) variant of CEBPE (Q15744)
G71A (p.Gly71Ala) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- gnomAD 14-23118879-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available