E27* (p.Glu27Ter) variant of FLNA (Filamin-A)
E27* (p.Glu27Ter) in FLNA (Filamin-A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs2522771899
- ClinGen CA415255663
- ClinVar RCV004545866
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available