P8S (p.Pro8Ser) variant of EP300 (Histone acetyltransferase p300)
P8S (p.Pro8Ser) 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 EP300-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- Ensembl rs1601582416
- Uncertain significance
- EP300-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (EP300-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available