A27T (p.Ala27Thr) variant of EP300 (Histone acetyltransferase p300)
A27T (p.Ala27Thr) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- ExAC rs768794905
- gnomAD rs768794905
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.25
- CADD 26.60
- PolyPhen-2 0.72
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available