R30Q (p.Arg30Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R30Q (p.Arg30Gln) 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 0.69 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60188
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available