N8D (p.Asn8Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8D (p.Asn8Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- rs1053985430
- gnomAD 14-61697878-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 13.10
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available
- Literature evidence available