V7F (p.Val7Phe) variant of FGA (Fibrinogen alpha chain)
V7F (p.Val7Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
V7F (p.Val7Phe) variant details
- p.Val7Phe
- 1000Genomes rs184672247
- ExAC rs184672247
- TOPMed rs184672247
- gnomAD rs184672247
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0598
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)