V34M (p.Val34Met) variant of FGA (Fibrinogen alpha chain)
V34M (p.Val34Met) 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 0.31 / 1. The record also includes population frequency data.
V34M (p.Val34Met) variant details
- p.Val34Met
- cosmic curated COSV57396
- ExAC rs746367635
- TOPMed rs746367635
- gnomAD rs746367635
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)