G93E (p.Gly93Glu) variant of APOH (Beta-2-glycoprotein 1)
G93E (p.Gly93Glu) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G93E (p.Gly93Glu) variant details
- p.Gly93Glu
- rs138448367
- ESP rs138448367
- ExAC rs138448367
- TOPMed rs138448367
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available