P10S (p.Pro10Ser) variant of EP300 (Histone acetyltransferase p300)
P10S (p.Pro10Ser) 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 not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs2145665490
- ClinGen CA411679417
- ClinVar RCV002592674
- ClinVar RCV004779238
- Uncertain significance
- not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.31
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (not provided; Rubinstein-Taybi syndrome due to EP300 haploinsuff)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)