P78L (p.Pro78Leu) variant of EZH1 (Q92800)
P78L (p.Pro78Leu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- ExAC rs745361319
- TOPMed rs745361319
- gnomAD rs745361319
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available