P8R (p.Pro8Arg) variant of EP300 (Histone acetyltransferase p300)
P8R (p.Pro8Arg) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- ExAC rs760995545
- TOPMed rs760995545
- gnomAD rs760995545
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available