K111* (p.Lys111Ter) variant of FGG (Fibrinogen gamma chain)
K111* (p.Lys111Ter) in FGG (Fibrinogen gamma chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
K111* (p.Lys111Ter) variant details
- p.Lys111Ter
- rs1578812509
- ClinGen CA358537917
- ClinVar RCV000851634
- ClinVar RCV003987698
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available