G6R (p.Gly6Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6R (p.Gly6Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 14-61697953-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 15.50
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available