G92S (p.Gly92Ser) variant of F8 (Coagulation factor VIII)
G92S (p.Gly92Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G92S (p.Gly92Ser) variant details
- p.Gly92Ser
- rs1304431117
- ClinGen CA414920115
- ClinVar RCV003147159
- TOPMed rs1304431117
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in HEMA)
- UniProt: Uncertain significance (in HEMA)
- Population evidence available
- Structural context available