T99A (p.Thr99Ala) variant of APOH (Beta-2-glycoprotein 1)
T99A (p.Thr99Ala) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T99A (p.Thr99Ala) variant details
- p.Thr99Ala
- ExAC rs767873103
- TOPMed rs767873103
- gnomAD rs767873103
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.08
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available