E133K (p.Glu133Lys) variant of APOH (Beta-2-glycoprotein 1)
E133K (p.Glu133Lys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E133K (p.Glu133Lys) variant details
- p.Glu133Lys
- ExAC rs775142630
- TOPMed rs775142630
- gnomAD rs775142630
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.24
- CADD 1.25
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available