L18F (p.Leu18Phe) variant of EP300 (Histone acetyltransferase p300)
L18F (p.Leu18Phe) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- ExAC rs777392825
- TOPMed rs777392825
- gnomAD rs777392825
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.43
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available