L23* (p.Leu23Ter) variant of PKLR (Pyruvate kinase PKLR)
L23* (p.Leu23Ter) in PKLR (Pyruvate kinase PKLR) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L23* (p.Leu23Ter) variant details
- p.Leu23Ter
- rs2525345893
- ClinGen CA342759168
- ClinVar RCV003990643
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available