D101G (p.Asp101Gly) variant of F8 (Coagulation factor VIII)
D101G (p.Asp101Gly) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D101G (p.Asp101Gly) variant details
- p.Asp101Gly
- rs1312347909
- ClinGen CA414920055
- ClinVar RCV001002670
- UniProt VAR 028466
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. (PMID 9886318)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)