N49del (p.Asn49del) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49del (p.Asn49del) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N49del (p.Asn49del) variant details
- gnomAD 14-61720488-CATA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 20.30
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Literature evidence available