T76S (p.Thr76Ser) variant of APOH (Beta-2-glycoprotein 1)
T76S (p.Thr76Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T76S (p.Thr76Ser) variant details
- p.Thr76Ser
- TOPMed rs1299775897
- gnomAD rs1299775897
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.07
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available