Y38H (p.Tyr38His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Y38H (p.Tyr38His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- gnomAD rs1174275971
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- CADD 29.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available