S28I (p.Ser28Ile) variant of EP300 (Histone acetyltransferase p300)
S28I (p.Ser28Ile) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- TOPMed rs1382860268
- gnomAD rs1382860268
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available