A25P (p.Ala25Pro) variant of EP300 (Histone acetyltransferase p300)
A25P (p.Ala25Pro) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs775703248
- NCI-TCGA Cosmic COSV9960
- ExAC rs775703248
- TOPMed rs775703248
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available