D9H (p.Asp9His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9H (p.Asp9His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D9H (p.Asp9His) variant details
- p.Asp9His
- rs752063685
- ExAC rs752063685
- TOPMed rs752063685
- gnomAD rs752063685
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.11
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:KARITIANA population (allele frequency 1)
- Structural context available