P45L (p.Pro45Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P45L (p.Pro45Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs774960388
- gnomAD 14-61697921-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 12.40
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available