F86S (p.Phe86Ser) variant of APOH (Beta-2-glycoprotein 1)
F86S (p.Phe86Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
F86S (p.Phe86Ser) variant details
- p.Phe86Ser
- rs2511980794
- ClinGen CA400683617
- ClinVar RCV004277542
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available