N49H (p.Asn49His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N49H (p.Asn49His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- gnomAD 14-61720491-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.11
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available
- Literature evidence available