L23F (p.Leu23Phe) variant of EP300 (Histone acetyltransferase p300)
L23F (p.Leu23Phe) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- ExAC rs778522586
- TOPMed rs778522586
- gnomAD rs778522586
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available