K2* (p.Lys2Ter) variant of FGB (Fibrinogen beta chain)
K2* (p.Lys2Ter) in FGB (Fibrinogen beta chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K2* (p.Lys2Ter) variant details
- p.Lys2Ter
- ESP rs6053
- ExAC rs6053
- TOPMed rs6053
- gnomAD rs6053
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 34.00
- EBI: Variant of uncertain significance (in dbSNP:rs6053)
- UniProt: Uncertain significance (in dbSNP:rs6053)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available