N49N (p.Asn49Asn) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49N (p.Asn49Asn) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N49N (p.Asn49Asn) variant details
- p.Asn49Asn
- gnomAD 14-61697952-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 6.80
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available