Q95H (p.Gln95His) variant of EZH1 (Q92800)
Q95H (p.Gln95His) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q95H (p.Gln95His) variant details
- p.Gln95His
- ExAC rs777539005
- gnomAD rs777539005
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.60
- CADD 22.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available