I13K (p.Ile13Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
I13K (p.Ile13Lys) 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.
I13K (p.Ile13Lys) variant details
- p.Ile13Lys
- gnomAD 14-61697945-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 18.40
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available