S12S (p.Ser12Ser) variant of EP300 (Histone acetyltransferase p300)
S12S (p.Ser12Ser) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs2145665538
- gnomAD 22-41093040-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available