E48Q (p.Glu48Gln) variant of F5 (Coagulation factor V)
E48Q (p.Glu48Gln) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- TOPMed rs1234787236
- gnomAD rs1234787236
- Uncertain significance
- Inborn genetic diseases; Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital factor V deficiency)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available