S24L (p.Ser24Leu) variant of EP300 (Histone acetyltransferase p300)
S24L (p.Ser24Leu) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- ESP rs373061594
- ExAC rs373061594
- gnomAD rs373061594
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.50
- CADD 28.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available