E3D (p.Glu3Asp) variant of EP300 (Histone acetyltransferase p300)
E3D (p.Glu3Asp) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs2058682150
- ClinGen CA411679375
- NCI-TCGA Cosmic COSV9960
- ClinVar RCV003527257
- Uncertain significance
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.15
- MetaLR 0.43
- MetaSVM -0.20
- PolyPhen-2 0.51
- SIFT 0.21
- MutPred 0.21
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)