G406S (p.Gly406Ser) variant of F10 (Coagulation factor X)
G406S (p.Gly406Ser) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G406S (p.Gly406Ser) variant details
- p.Gly406Ser
- rs376163818
- ClinGen CA7060705
- NCI-TCGA Cosmic COSV6502
- ClinVar RCV001834560
- Pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression… (PMID 15650540)
- Cited in: Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity. (PMID 25313940)