L40K (p.Leu40Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40K (p.Leu40Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L40K (p.Leu40Lys) variant details
- p.Leu40Lys
- gnomAD 14-61697889-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 24.40
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available