T31T (p.Thr31Thr) variant of EP300 (Histone acetyltransferase p300)
T31T (p.Thr31Thr) in EP300 (Histone acetyltransferase p300) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T31T (p.Thr31Thr) variant details
- p.Thr31Thr
- rs2145665847
- gnomAD 22-41093097-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 23.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available