N49M (p.Asn49Met) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49M (p.Asn49Met) 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.
N49M (p.Asn49Met) variant details
- p.Asn49Met
- gnomAD 14-61697947-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available