R1831S (p.Arg1831Ser) variant of EP300 (Histone acetyltransferase p300)
R1831S (p.Arg1831Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R1831S (p.Arg1831Ser) variant details
- p.Arg1831Ser
- rs1379274045
- ClinGen CA411709100
- ClinVar RCV001775377
- TOPMed rs1379274045
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Likely pathogenic (in MKHK2)
- UniProt: Likely pathogenic (in MKHK2)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)