P45R (p.Pro45Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
P45R (p.Pro45Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- rs774960388
- gnomAD 14-61697921-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 13.00
- SIFT 0.07
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available