S21* (p.Ser21Ter) variant of CEBPE (Q15744)
S21* (p.Ser21Ter) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- ExAC rs774222760
- TOPMed rs774222760
- gnomAD rs774222760
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 37.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available