H96R (p.His96Arg) variant of EZH1 (Q92800)
H96R (p.His96Arg) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H96R (p.His96Arg) variant details
- p.His96Arg
- 1000Genomes rs534076480
- ExAC rs534076480
- TOPMed rs534076480
- gnomAD rs534076480
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.45
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available