P67R (p.Pro67Arg) variant of APOH (Beta-2-glycoprotein 1)
P67R (p.Pro67Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P67R (p.Pro67Arg) variant details
- p.Pro67Arg
- rs567530022
- 1000Genomes rs567530022
- TOPMed rs567530022
- gnomAD rs567530022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.89
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available