R18Q (p.Arg18Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R18Q (p.Arg18Gln) 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 0.60 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60188
- TOPMed rs2044412888
- gnomAD rs2044412888
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.43
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available