R1829P (p.Arg1829Pro) variant of EP300 (Histone acetyltransferase p300)
R1829P (p.Arg1829Pro) 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 0.78 / 1. The record also includes published literature and structural context.
R1829P (p.Arg1829Pro) variant details
- p.Arg1829Pro
- rs2145516079
- ClinGen CA411709086
- ClinVar RCV001775441
- Ensembl rs2145516079
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.84
- MetaLR 0.78
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- 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)