G113E (p.Gly113Glu) variant of APOH (Beta-2-glycoprotein 1)
G113E (p.Gly113Glu) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G113E (p.Gly113Glu) variant details
- p.Gly113Glu
- TOPMed rs1449823168
- gnomAD rs1449823168
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.78
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available