S22P (p.Ser22Pro) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S22P (p.Ser22Pro) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- gnomAD 14-61697914-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 17.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available