F33L (p.Phe33Leu) variant of EP300 (Histone acetyltransferase p300)
F33L (p.Phe33Leu) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- gnomAD 22-41117189-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.58
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available