R22K (p.Arg22Lys) variant of F8 (Coagulation factor VIII)
R22K (p.Arg22Lys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R22K (p.Arg22Lys) variant details
- p.Arg22Lys
- rs2073765087
- ClinGen CA414920603
- ClinVar RCV001286196
- Ensembl rs2073765087
- Uncertain significance
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.23
- MetaLR 0.96
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.09
- MutPred 0.82
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease)
- EBI: Variant of uncertain significance (in HEMA)
- UniProt: Uncertain significance (in HEMA)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)