R129* (p.Arg129Ter) variant of FGA (Fibrinogen alpha chain)
R129* (p.Arg129Ter) in FGA (Fibrinogen alpha chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
R129* (p.Arg129Ter) variant details
- p.Arg129Ter
- cosmic curated COSV57393
- ExAC rs781289913
- TOPMed rs781289913
- gnomAD rs781289913
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 36.00
- Most common in the South Asian population (allele frequency 8.1e-05)