K12K (p.Lys12Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K12K (p.Lys12Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K12K (p.Lys12Lys) variant details
- p.Lys12Lys
- gnomAD 14-61720382-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 14.50
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available