G6V (p.Gly6Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6V (p.Gly6Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 14-61697954-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 20.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available