P10L (p.Pro10Leu) variant of EP300 (Histone acetyltransferase p300)
P10L (p.Pro10Leu) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- ExAC rs764405219
- TOPMed rs764405219
- gnomAD rs764405219
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.53
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available