F37L (p.Phe37Leu) variant of EP300 (Histone acetyltransferase p300)
F37L (p.Phe37Leu) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- gnomAD 22-41117201-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available