G450R (p.Gly450Arg) variant of F10 (Coagulation factor X)
G450R (p.Gly450Arg) 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 0.58 / 1. The record also includes population frequency data and structural context.
G450R (p.Gly450Arg) variant details
- p.Gly450Arg
- rs1595099844
- ClinGen CA388794353
- ClinVar RCV000851588
- ClinVar RCV006278069
- Likely pathogenic
- not provided; Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 24.20
- ClinVar: Likely pathogenic (not provided; Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available