L327V (p.Leu327Val) variant of F8 (Coagulation factor VIII)
L327V (p.Leu327Val) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L327V (p.Leu327Val) variant details
- p.Leu327Val
- rs1603435395
- ClinGen CA414917679
- ClinVar RCV000851921
- ClinVar RCV003235389
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.66
- MetaLR 0.83
- MetaSVM 0.35
- CADD 16.40
- PolyPhen-2 0.46
- SIFT 0.23
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Cited in: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PMID 11857744)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)