P16R (p.Pro16Arg) variant of EP300 (Histone acetyltransferase p300)
P16R (p.Pro16Arg) 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 0.68 / 1. The record also includes published literature and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- rs2145665599
- ClinGen CA411679450
- ClinVar RCV002834199
- Ensembl rs2145665599
- Uncertain significance
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- 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)