D9G (p.Asp9Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9G (p.Asp9Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- gnomAD 14-61695830-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available