R40T (p.Arg40Thr) variant of F10 (Coagulation factor X)
R40T (p.Arg40Thr) 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 record also includes structural context.
R40T (p.Arg40Thr) variant details
- p.Arg40Thr
- rs2503081410
- ClinGen CA388787496
- ClinVar RCV003313859
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available