R100G (p.Arg100Gly) variant of EZH1 (Q92800)
R100G (p.Arg100Gly) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R100G (p.Arg100Gly) variant details
- p.Arg100Gly
- ESP rs369111500
- ExAC rs369111500
- TOPMed rs369111500
- gnomAD rs369111500
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available