P47P (p.Pro47Pro) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P47P (p.Pro47Pro) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P47P (p.Pro47Pro) variant details
- p.Pro47Pro
- gnomAD 14-61720487-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 10.50
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available
- Literature evidence available