R23* (p.Arg23Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R23* (p.Arg23Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- cosmic curated COSV60190
- Ensembl rs2044413097
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 35.00
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available