A2A (p.Ala2Ala) variant of EP300 (Histone acetyltransferase p300)
A2A (p.Ala2Ala) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1292335705
- gnomAD 22-41093010-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available