G41S (p.Gly41Ser) variant of F8 (Coagulation factor VIII)
G41S (p.Gly41Ser) 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 F8-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- ExAC rs137852379
- gnomAD rs137852379
- Uncertain significance
- F8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.44
- MetaLR 0.77
- MetaSVM 0.48
- CADD 0.96
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (F8-related disorder)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available