F218S (p.Phe218Ser) variant of F5 (Coagulation factor V)
F218S (p.Phe218Ser) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F218S (p.Phe218Ser) variant details
- p.Phe218Ser
- rs1660402465
- ClinGen CA343136000
- ClinVar RCV003596846
- Ensembl rs1660402465
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Congenital factor V deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available