H48P (p.His48Pro) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
H48P (p.His48Pro) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H48P (p.His48Pro) variant details
- p.His48Pro
- gnomAD 14-61720489-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.36
- MetaLR 0.11
- MetaSVM -0.95
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available