E54K (p.Glu54Lys) variant of F10 (Coagulation factor X)
E54K (p.Glu54Lys) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Factor X deficiency; Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs121964939
- ClinGen CA256471553
- NCI-TCGA Cosmic COSV6502
- cosmic curated COSV65021
- Conflicting interpretations
- Factor X deficiency; Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.76
- CADD 24.20
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Factor X deficiency; Hereditary factor X deficiency disease)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Molecular analysis of the genotype-phenotype relationship in factor X deficiency. (PMID 10746568)
- Cited in: Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X… (PMID 1973167)