V7I (p.Val7Ile) variant of FGA (Fibrinogen alpha chain)
V7I (p.Val7Ile) 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 0.05 / 1. The record also includes population frequency data.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- cosmic curated COSV57392
- 1000Genomes rs184672247
- ExAC rs184672247
- TOPMed rs184672247
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0497
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)