A27A (p.Ala27Ala) variant of EP300 (Histone acetyltransferase p300)
A27A (p.Ala27Ala) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- rs2145665783
- gnomAD 22-41093085-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available