T48R (p.Thr48Arg) variant of APOH (Beta-2-glycoprotein 1)
T48R (p.Thr48Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T48R (p.Thr48Arg) variant details
- p.Thr48Arg
- TOPMed rs1394413014
- gnomAD rs1394413014
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.29
- CADD 7.76
- PolyPhen-2 0.82
- SIFT 0.16
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available