S12L (p.Ser12Leu) variant of EP300 (Histone acetyltransferase p300)
S12L (p.Ser12Leu) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- ExAC rs758786824
- TOPMed rs758786824
- gnomAD rs758786824
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available