K10E (p.Lys10Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K10E (p.Lys10Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K10E (p.Lys10Glu) variant details
- p.Lys10Glu
- Ensembl rs2140112009
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available