F83L (p.Phe83Leu) variant of VKORC1 (Q9BQB6)
F83L (p.Phe83Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- NCI-TCGA Cosmic COSV9976
- cosmic curated COSV99762
- ExAC rs754924004
- TOPMed rs754924004
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.59
- CADD 15.00
- PolyPhen-2 0.39
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available