S48S (p.Ser48Ser) variant of CEBPE (Q15744)
S48S (p.Ser48Ser) in CEBPE (Q15744) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD 14-23118948-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.68
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available
- Literature evidence available