Q80* (p.Gln80Ter) variant of ETFA (P13804)
Q80* (p.Gln80Ter) in ETFA (P13804) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs2543032548
- ClinGen CA393517275
- ClinVar RCV003475601
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)