N1286S (p.Asn1286Ser) variant of EP300 (Histone acetyltransferase p300)
N1286S (p.Asn1286Ser) 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 EP300-related disorder; not provided; Rubinstein-Taybi syndrome due to EP300 hap. The record also includes variant effect predictions, published literature, and structural context.
N1286S (p.Asn1286Ser) variant details
- p.Asn1286Ser
- rs1555910821
- ClinGen CA411698707
- ClinVar RCV000439427
- ClinVar RCV001260706
- Pathogenic/Likely pathogenic
- EP300-related disorder; not provided; Rubinstein-Taybi syndrome due to EP300 hap
- Missense
- MutPred 0.50
- ClinVar: Pathogenic/Likely pathogenic (EP300-related disorder; not provided; Rubinstein-Taybi syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. (PMID 27465822)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)