C1250Y (p.Cys1250Tyr) variant of EP300 (Histone acetyltransferase p300)
C1250Y (p.Cys1250Tyr) 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 CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C1250Y (p.Cys1250Tyr) variant details
- p.Cys1250Tyr
- rs1601629319
- ClinGen CA411697816
- ClinVar RCV000990454
- Ensembl rs1601629319
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- MutPred 0.91
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)