D29del (p.Asp29del) variant of EP300 (Histone acetyltransferase p300)
D29del (p.Asp29del) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D29del (p.Asp29del) variant details
- gnomAD 22-41093088-CGAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available