K12E (p.Lys12Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K12E (p.Lys12Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD 14-61695838-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available