R301S (p.Arg301Ser) variant of FGG (Fibrinogen gamma chain)
R301S (p.Arg301Ser) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant FGG-related disorders; Familial dysfibrinogenemia; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
R301S (p.Arg301Ser) variant details
- p.Arg301Ser
- rs121913087
- ClinGen CA358536045
- ClinVar RCV003480145
- Pathogenic
- Autosomal dominant FGG-related disorders; Familial dysfibrinogenemia; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.73
- MetaLR 0.72
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in DYSFIBRIN)
- UniProt: Pathogenic (in DYSFIBRIN)
- Structural context available