R82K (p.Arg82Lys) variant of APOH (Beta-2-glycoprotein 1)
R82K (p.Arg82Lys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R82K (p.Arg82Lys) variant details
- p.Arg82Lys
- gnomAD rs1322059210
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.17
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.73
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available