T48M (p.Thr48Met) variant of APOH (Beta-2-glycoprotein 1)
T48M (p.Thr48Met) 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.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- TOPMed rs1394413014
- gnomAD rs1394413014
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.24
- CADD 6.44
- PolyPhen-2 0.64
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available