K99E (p.Lys99Glu) variant of F5 (Coagulation factor V)
K99E (p.Lys99Glu) in F5 (Coagulation factor V) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K99E (p.Lys99Glu) variant details
- p.Lys99Glu
- TOPMed rs1298868363
- gnomAD rs1298868363
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.62
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available