N8I (p.Asn8Ile) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8I (p.Asn8Ile) 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.
N8I (p.Asn8Ile) variant details
- p.Asn8Ile
- gnomAD 14-61695827-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available