Y1699S (p.Tyr1699Ser) variant of F8 (Coagulation factor VIII)
Y1699S (p.Tyr1699Ser) 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 not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Y1699S (p.Tyr1699Ser) variant details
- p.Tyr1699Ser
- rs28935203
- ClinGen CA414913959
- ClinVar RCV003548273
- ClinVar RCV005636959
- Likely pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- MutPred 0.81
- ClinVar: Likely pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)