C55S (p.Cys55Ser) variant of FGA (Fibrinogen alpha chain)
C55S (p.Cys55Ser) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
C55S (p.Cys55Ser) variant details
- p.Cys55Ser
- TOPMed rs1730817981
- NCI-TCGA Cosmic COSV5740
- cosmic curated COSV57401
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance (in CAFBN)
- UniProt: Uncertain significance (in CAFBN)
- Most common in the Non-Finnish European population (allele frequency 9e-07)