F118L (p.Phe118Leu) variant of PROC (Vitamin K-dependent protein C)
F118L (p.Phe118Leu) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F118L (p.Phe118Leu) variant details
- p.Phe118Leu
- rs1553424043
- UniProt VAR 006652
- Ensembl rs1553424043
- Likely pathogenic
- Deep venous thrombosis; Thromboembolism; Thrombophilia due to protein C deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.80
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.05
- ClinVar: Likely pathogenic (Deep venous thrombosis; Thromboembolism; Thrombophilia due to pr)
- EBI: Likely pathogenic (in patients with PROC deficiency)
- UniProt: Likely pathogenic (in patients with PROC deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available