P10R (p.Pro10Arg) variant of EP300 (Histone acetyltransferase p300)
P10R (p.Pro10Arg) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EP300-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- rs764405219
- ClinGen CA10252139
- ClinVar RCV003919744
- ExAC rs764405219
- Likely benign
- EP300-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.62
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (EP300-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available