D9N (p.Asp9Asn) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9N (p.Asp9Asn) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- ExAC rs752063685
- TOPMed rs752063685
- gnomAD rs752063685
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.09
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.0019)
- Structural context available