T125A (p.Thr125Ala) variant of APOH (Beta-2-glycoprotein 1)
T125A (p.Thr125Ala) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T125A (p.Thr125Ala) variant details
- p.Thr125Ala
- TOPMed rs2073417583
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.29
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available