R1197W (p.Arg1197Trp) variant of EP300 (Histone acetyltransferase p300)
R1197W (p.Arg1197Trp) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The record also includes variant effect predictions, published literature, and structural context.
R1197W (p.Arg1197Trp) variant details
- p.Arg1197Trp
- rs1340981566
- ClinGen CA411695597
- ClinVar RCV002548926
- TOPMed rs1340981566
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- MutPred 0.63
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)