T125I (p.Thr125Ile) variant of APOH (Beta-2-glycoprotein 1)
T125I (p.Thr125Ile) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T125I (p.Thr125Ile) variant details
- p.Thr125Ile
- rs1267030670
- ClinGen CA400682910
- ClinVar RCV004321690
- TOPMed rs1267030670
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.20
- CADD 19.70
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available