K129R (p.Lys129Arg) variant of APOH (Beta-2-glycoprotein 1)
K129R (p.Lys129Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
K129R (p.Lys129Arg) variant details
- p.Lys129Arg
- TOPMed rs1360166805
- gnomAD rs1360166805
- Missense
- Variant Prioritization Score for Impact Estimate 0.0532
- REVEL 0.04
- CADD 2.28
- PolyPhen-2 0.02
- SIFT 0.31
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available