E58K (p.Glu58Lys) variant of FGA (Fibrinogen alpha chain)
E58K (p.Glu58Lys) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- gnomAD rs1730817582
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.59
- CADD 30.00
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)