K11K (p.Lys11Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K11K (p.Lys11Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K11K (p.Lys11Lys) variant details
- p.Lys11Lys
- gnomAD 14-61695837-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available