V14M (p.Val14Met) variant of FGA (Fibrinogen alpha chain)
V14M (p.Val14Met) 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 not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
V14M (p.Val14Met) variant details
- p.Val14Met
- cosmic curated COSV57401
- TOPMed rs1301255964
- gnomAD rs1301255964
- Uncertain significance
- not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.11
- CADD 17.10
- PolyPhen-2 0.27
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; Familial visceral amyloidosis, Ostertag type; Fam)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)