L18R (p.Leu18Arg) variant of EP300 (Histone acetyltransferase p300)
L18R (p.Leu18Arg) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 22-41093057-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.64
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available