H42H (p.His42His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
H42H (p.His42His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H42H (p.His42His) variant details
- p.His42His
- rs1038759891
- gnomAD 14-61720472-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 11.80
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available