G9W (p.Gly9Trp) variant of EP300 (Histone acetyltransferase p300)
G9W (p.Gly9Trp) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- gnomAD rs1264361255
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available