P45A (p.Pro45Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P45A (p.Pro45Ala) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- gnomAD 14-61697920-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 6.57
- SIFT 0.65
- Most common in the REMAINING population (allele frequency 0.0019)
- Structural context available
- Literature evidence available