Y1699F (p.Tyr1699Phe) variant of F8 (Coagulation factor VIII)
Y1699F (p.Tyr1699Phe) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y1699F (p.Tyr1699Phe) variant details
- p.Tyr1699Phe
- rs28935203
- ClinGen CA255022
- ClinVar RCV000010828
- ClinVar RCV002508187
- Pathogenic
- Inborn genetic diseases; not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.78
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Hereditary factor VIII de)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding… (PMID 1908096)
- Cited in: Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. (PMID 2105906)