R1831T (p.Arg1831Thr) variant of EP300 (Histone acetyltransferase p300)
R1831T (p.Arg1831Thr) 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 0.83 / 1. The record also includes published literature and structural context.
R1831T (p.Arg1831Thr) variant details
- p.Arg1831Thr
- rs1601639958
- ClinGen CA411709099
- ClinVar RCV000850550
- Ensembl rs1601639958
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.85
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.78
- 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)