V36D (p.Val36Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V36D (p.Val36Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense 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.
V36D (p.Val36Asp) variant details
- p.Val36Asp
- gnomAD 14-61697888-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.90
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available