L126* (p.Leu126Ter) variant of REEP1 (Q9H902)
L126* (p.Leu126Ter) in REEP1 (Q9H902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L126* (p.Leu126Ter) variant details
- p.Leu126Ter
- rs2468826608
- ClinGen CA347716004
- ClinVar RCV002468772
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available