S28G (p.Ser28Gly) variant of EP300 (Histone acetyltransferase p300)
S28G (p.Ser28Gly) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- ExAC rs762091919
- gnomAD rs762091919
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.37
- CADD 29.70
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available