S28R (p.Ser28Arg) variant of EP300 (Histone acetyltransferase p300)
S28R (p.Ser28Arg) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- ExAC rs762091919
- gnomAD rs762091919
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.42
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available