P45T (p.Pro45Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P45T (p.Pro45Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P45T (p.Pro45Thr) variant details
- p.Pro45Thr
- gnomAD 14-61697920-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 9.94
- SIFT 0.35
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available