V7L (p.Val7Leu) variant of FGA (Fibrinogen alpha chain)
V7L (p.Val7Leu) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- rs184672247
- 1000Genomes rs184672247
- ExAC rs184672247
- TOPMed rs184672247
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0523
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)