N8H (p.Asn8His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8H (p.Asn8His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N8H (p.Asn8His) variant details
- p.Asn8His
- gnomAD 14-61695826-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.14
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available