K21R (p.Lys21Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K21R (p.Lys21Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- rs1461259695
- ClinGen CA389923838
- ClinVar RCV004397141
- TOPMed rs1461259695
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.97
- MetaLR 0.49
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available