R62K (p.Arg62Lys) variant of APOH (Beta-2-glycoprotein 1)
R62K (p.Arg62Lys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R62K (p.Arg62Lys) variant details
- p.Arg62Lys
- ExAC rs778366478
- TOPMed rs778366478
- gnomAD rs778366478
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- CADD 16.60
- PolyPhen-2 0.57
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available