K21M (p.Lys21Met) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K21M (p.Lys21Met) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K21M (p.Lys21Met) variant details
- p.Lys21Met
- TOPMed rs1461259695
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- AlphaMissense 0.97
- MetaLR 0.49
- MetaSVM 0.18
- CADD 29.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available