T887I (p.Thr887Ile) variant of EP300 (Histone acetyltransferase p300)
T887I (p.Thr887Ile) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T887I (p.Thr887Ile) variant details
- p.Thr887Ile
- rs953108559
- ClinGen CA324536409
- ClinVar RCV001269285
- Ensembl rs953108559
- Pathogenic/Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)