F46L (p.Phe46Leu) variant of PROC (Vitamin K-dependent protein C)
F46L (p.Phe46Leu) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein C deficiency, autosomal dominant; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- ESP rs141040323
- ExAC rs141040323
- TOPMed rs141040323
- gnomAD rs141040323
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.69
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant; n)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available