S22* (p.Ser22Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S22* (p.Ser22Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- gnomAD 14-61697915-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available