T31I (p.Thr31Ile) variant of EP300 (Histone acetyltransferase p300)
T31I (p.Thr31Ile) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- Ensembl rs2145665839
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.43
- CADD 27.80
- PolyPhen-2 0.49
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available