F55L (p.Phe55Leu) variant of VKORC1 (Q9BQB6)
F55L (p.Phe55Leu) in VKORC1 (Q9BQB6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- rs1392107723
- gnomAD rs1392107723
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.81
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available