P11L (p.Pro11Leu) variant of EP300 (Histone acetyltransferase p300)
P11L (p.Pro11Leu) 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 and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- ExAC rs765627133
- gnomAD rs765627133
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.45
- CADD 27.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available