V36I (p.Val36Ile) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V36I (p.Val36Ile) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- TOPMed rs1167775993
- gnomAD rs1167775993
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.36
- CADD 24.60
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available