T31A (p.Thr31Ala) variant of EP300 (Histone acetyltransferase p300)
T31A (p.Thr31Ala) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- Ensembl rs2145665831
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available