H48H (p.His48His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
H48H (p.His48His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H48H (p.His48His) variant details
- p.His48His
- rs2044413984
- gnomAD 14-61720490-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available