P16L (p.Pro16Leu) variant of EP300 (Histone acetyltransferase p300)
P16L (p.Pro16Leu) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- Ensembl rs2145665599
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.51
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.56
- CADD 25.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available