N637S (p.Asn637Ser) variant of F8 (Coagulation factor VIII)
N637S (p.Asn637Ser) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N637S (p.Asn637Ser) variant details
- p.Asn637Ser
- rs2073315379
- ClinGen CA414909849
- ClinVar RCV001703070
- ClinVar RCV002243431
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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: Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains… (PMID 10691849)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)