E91G (p.Glu91Gly) variant of APOH (Beta-2-glycoprotein 1)
E91G (p.Glu91Gly) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E91G (p.Glu91Gly) variant details
- p.Glu91Gly
- 1000Genomes rs12544
- ExAC rs12544
- TOPMed rs12544
- gnomAD rs12544
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.39
- CADD 25.00
- PolyPhen-2 0.66
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available