G60R (p.Gly60Arg) variant of APOH (Beta-2-glycoprotein 1)
G60R (p.Gly60Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- ExAC rs747560976
- TOPMed rs747560976
- gnomAD rs747560976
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- CADD 21.40
- PolyPhen-2 0.65
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available