G34D (p.Gly34Asp) variant of EP300 (Histone acetyltransferase p300)
G34D (p.Gly34Asp) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- ExAC rs764782074
- gnomAD rs764782074
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.61
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available