R58Q (p.Arg58Gln) variant of APOH (Beta-2-glycoprotein 1)
R58Q (p.Arg58Gln) 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 0.33 / 1. The record also includes population frequency data and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- NCI-TCGA Cosmic COSV5277
- ExAC rs768884547
- TOPMed rs768884547
- gnomAD rs768884547
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available