V181M (p.Val181Met) variant of F8 (Coagulation factor VIII)
V181M (p.Val181Met) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of F8-related disorder; Hereditary factor IX deficiency disease; Hereditary factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V181M (p.Val181Met) variant details
- p.Val181Met
- rs137852394
- ClinGen CA255066
- ClinVar RCV000010890
- ClinVar RCV000851946
- Pathogenic
- F8-related disorder; Hereditary factor IX deficiency disease; Hereditary factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.82
- MetaLR 0.96
- MetaSVM 0.87
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (F8-related disorder; Hereditary factor IX deficiency disease; He)
- 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: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. (PMID 11748850)