V99D (p.Val99Asp) variant of F8 (Coagulation factor VIII)
V99D (p.Val99Asp) 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 0.84 / 1. The record also includes published literature and structural context.
V99D (p.Val99Asp) variant details
- p.Val99Asp
- rs137852382
- ClinGen CA255054
- ClinVar RCV000010878
- UniProt VAR 001052
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Somatic mosaicism in hemophilia A: a fairly common event. (PMID 11410838)
- Cited in: Molecular etiology of factor VIII deficiency in hemophilia A. (PMID 7728145)