P8L (p.Pro8Leu) variant of EP300 (Histone acetyltransferase p300)
P8L (p.Pro8Leu) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- ExAC rs760995545
- TOPMed rs760995545
- gnomAD rs760995545
- Likely benign
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.73
- SIFT 0.37
- ClinVar: Likely benign (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available