C404R (p.Cys404Arg) variant of F10 (Coagulation factor X)
C404R (p.Cys404Arg) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C404R (p.Cys404Arg) variant details
- p.Cys404Arg
- rs1595099645
- ClinGen CA388793686
- ClinVar RCV000851584
- UniProt VAR 065449
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Population evidence available
- Structural context available
- Cited in: Molecular analysis of the genotype-phenotype relationship in factor X deficiency. (PMID 10746568)
- Cited in: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (PMID 10468877)