S20S (p.Ser20Ser) variant of EP300 (Histone acetyltransferase p300)
S20S (p.Ser20Ser) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs2145665664
- gnomAD 22-41093064-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available