I405S (p.Ile405Ser) variant of F8 (Coagulation factor VIII)
I405S (p.Ile405Ser) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
I405S (p.Ile405Ser) variant details
- p.Ile405Ser
- rs28933670
- ClinGen CA255098
- ClinVar RCV000010921
- UniProt VAR 001094
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important… (PMID 32166871)
- Cited in: Characterization of genetic defects of hemophilia A in patients of Chinese origin. (PMID 8307558)