D24V (p.Asp24Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D24V (p.Asp24Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D24V (p.Asp24Val) variant details
- p.Asp24Val
- gnomAD 14-61720417-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.50
- MetaLR 0.42
- MetaSVM 0.01
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available
- Literature evidence available