E54G (p.Glu54Gly) variant of F10 (Coagulation factor X)
E54G (p.Glu54Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- rs121964944
- ClinGen CA7060367
- ClinVar RCV000852044
- ClinVar RCV001824369
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.94
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain. (PMID 7860069)
- 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)