S20F (p.Ser20Phe) variant of EP300 (Histone acetyltransferase p300)
S20F (p.Ser20Phe) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- TOPMed rs1340956941
- gnomAD rs1340956941
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.62
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available