R58* (p.Arg58Ter) variant of APOH (Beta-2-glycoprotein 1)
R58* (p.Arg58Ter) in APOH (Beta-2-glycoprotein 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R58* (p.Arg58Ter) variant details
- p.Arg58Ter
- rs150681833
- NCI-TCGA Cosmic COSV5277
- ESP rs150681833
- ExAC rs150681833
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 33.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available