N49T (p.Asn49Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49T (p.Asn49Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N49T (p.Asn49Thr) variant details
- p.Asn49Thr
- gnomAD 14-61720492-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.12
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available