G289R (p.Gly289Arg) variant of F10 (Coagulation factor X)
G289R (p.Gly289Arg) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor x deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G289R (p.Gly289Arg) variant details
- p.Gly289Arg
- rs121964946
- ClinGen CA256478326
- ClinVar RCV000012846
- UniProt VAR 065437
- Pathogenic
- Factor x deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.99
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.63
- ClinVar: Pathogenic (Factor x deficiency, autosomal dominant)
- 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: Splicing of messenger RNA precursors. (PMID 2943217)