V36A (p.Val36Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V36A (p.Val36Ala) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- gnomAD 14-61697888-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available