P47T (p.Pro47Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P47T (p.Pro47Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- ExAC rs761337243
- gnomAD rs761337243
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available