V36F (p.Val36Phe) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V36F (p.Val36Phe) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V36F (p.Val36Phe) variant details
- p.Val36Phe
- gnomAD 14-61697887-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 15.70
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available