G18C (p.Gly18Cys) variant of PROC (Vitamin K-dependent protein C)
G18C (p.Gly18Cys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- 1000Genomes rs146793243
- ESP rs146793243
- ExAC rs146793243
- TOPMed rs146793243
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.43
- CADD 4.55
- PolyPhen-2 0.68
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available