S554G (p.Ser554Gly) variant of F8 (Coagulation factor VIII)
S554G (p.Ser554Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S554G (p.Ser554Gly) variant details
- p.Ser554Gly
- rs137852419
- ClinGen CA255116
- ClinVar RCV000010939
- ClinVar RCV000727106
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. (PMID 11858487)
- Cited in: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and… (PMID 1301932)