G34R (p.Gly34Arg) variant of EP300 (Histone acetyltransferase p300)
G34R (p.Gly34Arg) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- gnomAD 22-41117192-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.64
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available