R24* (p.Arg24Ter) variant of CEBPE (Q15744)
R24* (p.Arg24Ter) in CEBPE (Q15744) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R24* (p.Arg24Ter) variant details
- p.Arg24Ter
- rs1396196056
- ClinGen CA388954104
- ClinVar RCV002541178
- ClinVar RCV003147669
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available