L26R (p.Leu26Arg) variant of F8 (Coagulation factor VIII)
L26R (p.Leu26Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
L26R (p.Leu26Arg) variant details
- p.Leu26Arg
- rs137852377
- ClinGen CA255046
- ClinVar RCV000010866
- UniProt VAR 001045
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.19
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid… (PMID 12871415)