L69P (p.Leu69Pro) variant of F8 (Coagulation factor VIII)
L69P (p.Leu69Pro) 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 0.58 / 1. The record also includes published literature and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- rs944567323
- UniProt VAR 028458
- TOPMed rs944567323
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.24
- MetaLR 0.87
- MetaSVM 0.63
- PolyPhen-2 0.35
- SIFT 0.01
- EVE 0.08
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients… (PMID 10896236)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)