R23Q (p.Arg23Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R23Q (p.Arg23Gln) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- gnomAD 14-61720414-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.46
- MetaLR 0.51
- MetaSVM 0.16
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available