R18* (p.Arg18Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R18* (p.Arg18Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) 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 0.54 / 1. The record also includes population frequency data and structural context.
R18* (p.Arg18Ter) variant details
- p.Arg18Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available