A63G (p.Ala63Gly) variant of CEBPE (Q15744)
A63G (p.Ala63Gly) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A63G (p.Ala63Gly) variant details
- p.Ala63Gly
- gnomAD 14-23118903-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.30
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available