G406R (p.Gly406Arg) variant of F10 (Coagulation factor X)
G406R (p.Gly406Arg) 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 not provided; Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G406R (p.Gly406Arg) variant details
- p.Gly406Arg
- ESP rs376163818
- ExAC rs376163818
- TOPMed rs376163818
- gnomAD rs376163818
- Likely pathogenic
- not provided; Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Population evidence available
- Structural context available