K12R (p.Lys12Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K12R (p.Lys12Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- gnomAD 14-61695839-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available