E72Q (p.Glu72Gln) variant of F10 (Coagulation factor X)
E72Q (p.Glu72Gln) 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 0.74 / 1. The record also includes published literature and structural context.
E72Q (p.Glu72Gln) variant details
- p.Glu72Gln
- rs121964945
- ClinGen CA256471617
- ClinVar RCV000012845
- UniProt VAR 065432
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.14
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.94
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Structural context available
- 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)
- Cited in: The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys… (PMID 10739379)