D32Y (p.Asp32Tyr) variant of EP300 (Histone acetyltransferase p300)
D32Y (p.Asp32Tyr) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- TOPMed rs1198218045
- gnomAD rs1198218045
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.77
- CADD 35.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available