E47G (p.Glu47Gly) variant of F10 (Coagulation factor X)
E47G (p.Glu47Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- rs121964943
- ClinGen CA7060359
- ClinVar RCV000012843
- UniProt VAR 065428
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.94
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant… (PMID 8910490)
- Cited in: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (PMID 10468877)