N49K (p.Asn49Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49K (p.Asn49Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- gnomAD 14-61697947-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available