P21L (p.Pro21Leu) variant of EP300 (Histone acetyltransferase p300)
P21L (p.Pro21Leu) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- Ensembl rs2145665670
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.66
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available