E545V (p.Glu545Val) variant of FGA (Fibrinogen alpha chain)
E545V (p.Glu545Val) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital afibrinogenemia; Familial dysfibrinogenemia; Familial visceral amyloi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
E545V (p.Glu545Val) variant details
- p.Glu545Val
- rs121909612
- ClinGen CA126494
- ClinVar RCV000017871
- ClinVar RCV002490381
- Pathogenic/Likely pathogenic
- Congenital afibrinogenemia; Familial dysfibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.21
- CADD 11.60
- PolyPhen-2 0.37
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Congenital afibrinogenemia; Familial dysfibrinogenemia; Familial)
- EBI: Pathogenic (in AMYLD2)
- UniProt: Pathogenic (in AMYLD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)
- Cited in: Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. (PMID 19109585)