R17H (p.Arg17His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R17H (p.Arg17His) 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 0.61 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs1163104034
- cosmic curated COSV10004
- TOPMed rs1163104034
- gnomAD rs1163104034
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available