D38Y (p.Asp38Tyr) variant of EP300 (Histone acetyltransferase p300)
D38Y (p.Asp38Tyr) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- gnomAD 22-41117204-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available