I13M (p.Ile13Met) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
I13M (p.Ile13Met) 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 and structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- gnomAD rs1334800559
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available