D9Y (p.Asp9Tyr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9Y (p.Asp9Tyr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 14-61695829-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available
- Literature evidence available