S12* (p.Ser12Ter) variant of EP300 (Histone acetyltransferase p300)
S12* (p.Ser12Ter) in EP300 (Histone acetyltransferase p300) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- ExAC rs758786824
- TOPMed rs758786824
- gnomAD rs758786824
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.40
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available