S308L (p.Ser308Leu) variant of F8 (Coagulation factor VIII)
S308L (p.Ser308Leu) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S308L (p.Ser308Leu) variant details
- p.Ser308Leu
- rs137852404
- ClinGen CA255082
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010908
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.15
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- 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: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and… (PMID 10338101)
- Cited in: Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. (PMID 8449505)