R84* (p.Arg84Ter) variant of F12 (Coagulation factor XII)
R84* (p.Arg84Ter) in F12 (Coagulation factor XII) 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 0.81 / 1. The record also includes population frequency data and structural context.
R84* (p.Arg84Ter) variant details
- p.Arg84Ter
- NCI-TCGA Cosmic COSV5369
- Ensembl rs1763275551
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available