R123L (p.Arg123Leu) variant of FGA (Fibrinogen alpha chain)
R123L (p.Arg123Leu) 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 0.27 / 1. The record also includes population frequency data.
R123L (p.Arg123Leu) variant details
- p.Arg123Leu
- ExAC rs745581691
- TOPMed rs745581691
- gnomAD rs745581691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.24
- CADD 6.55
- PolyPhen-2 0.00
- SIFT 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)