F1504C (p.Phe1504Cys) variant of EP300 (Histone acetyltransferase p300)
F1504C (p.Phe1504Cys) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
F1504C (p.Phe1504Cys) variant details
- p.Phe1504Cys
- rs1114167306
- ClinGen CA411702855
- ClinVar RCV000490787
- Ensembl rs1114167306
- Pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- MutPred 0.92
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)