A13A (p.Ala13Ala) variant of EP300 (Histone acetyltransferase p300)
A13A (p.Ala13Ala) 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.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs2145665558
- gnomAD 22-41093043-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available