G118D (p.Gly118Asp) variant of APOH (Beta-2-glycoprotein 1)
G118D (p.Gly118Asp) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G118D (p.Gly118Asp) variant details
- p.Gly118Asp
- TOPMed rs940464523
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.74
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available