G42C (p.Gly42Cys) variant of FGG (Fibrinogen gamma chain)
G42C (p.Gly42Cys) in FGG (Fibrinogen gamma chain) 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 0.78 / 1. The record also includes population frequency data and structural context.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- 1000Genomes rs202132393
- ESP rs202132393
- ExAC rs202132393
- TOPMed rs202132393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.73
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available