L18L (p.Leu18Leu) variant of EP300 (Histone acetyltransferase p300)
L18L (p.Leu18Leu) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs748882006
- gnomAD 22-41093058-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 13.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available