R29W (p.Arg29Trp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R29W (p.Arg29Trp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- cosmic curated COSV10004
- ExAC rs746540920
- gnomAD rs746540920
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.70
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available