D29D (p.Asp29Asp) variant of EP300 (Histone acetyltransferase p300)
D29D (p.Asp29Asp) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D29D (p.Asp29Asp) variant details
- p.Asp29Asp
- rs1180540617
- gnomAD 22-41093091-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.68
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available