L327P (p.Leu327Pro) variant of F8 (Coagulation factor VIII)
L327P (p.Leu327Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L327P (p.Leu327Pro) variant details
- p.Leu327Pro
- rs137852407
- ClinGen CA255086
- ClinVar RCV000010912
- UniProt VAR 001083
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely 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)